Langerhans Cell Histiocytosis in Children

Langerhans cell histiocytosis (LCH) is the most common of the histiocytic disorders and occurs when the body accumulates too many immature Langerhans cells, a subset of the larger family of cells known as histiocytes.

Langerhans cell histiocytosis (LCH) is the most common of the histiocytic disorders and occurs when the body accumulates too many immature Langerhans cells, a subset of the larger family of cells known as histiocytes.  Langerhans cells are a type of white blood cell that normally help the body fight infection.  In LCH, too many Langerhans cells are produced and build up in certain parts of the body where they can form tumors or damage organs.  The cause of this disease is unknown, although many possibilities have been explored, including viruses, exposure to toxins in the environment, family history and geography. Most data support the concept that LCH is a diverse disease characterized by a clonal growth of immature Langerhans cells that appear to have mutations of BRAF in about half the cases. LCH is not caused by a known infection.  It is not contagious, nor is it believed to be inherited. Scientific discussions on the definition of LCH continue to be debated in terms of its classification as either an immune dysfunction or a rare cancer (neoplastic and malignant or not malignant). There remain differing opinions among experts as to whether it is definitively a cancer or not.

As of 2020:  According to most experts, Langerhans cell Histiocytosis (LCH) is currently classified as a rare cancer. However, this doesn't necessarily mean that all of the worrisome implications that come along with the term “cancer” are true of LCH for every patient; LCH and other histiocytic disorders have a wide spectrum of presentations.

Histiocytosis was first described in the medical literature in the mid to late 1800s.  Through the years, it has been known by various names, such as histiocytosis X, eosinophilic granuloma, Letterer-Siwe disease, Hashimoto-Pritzker disease, and Hand-Schüller-Christian syndrome.  In 1973, the name Langerhans cell histiocytosis (LCH) was introduced.  This name was agreed upon to recognize the central role of the Langerhans cell.

LCH is believed to occur in 1:200,000 children, but any age group can be affected, from infancy through adulthood.  In newborns and very young infants, it occurs in 1-2 per million.  It is, however, believed to be under-diagnosed, since some patients may have no symptoms, while others have symptoms that are mistaken for injury or other conditions.  It occurs most often between the ages of 1-3 years and may appear as a single lesion or can affect many body systems, such as skin, bone, lymph glands, liver, lung, spleen, brain, pituitary gland and bone marrow.

Information has been collected in various studies which show that bone involvement occurs in approximately 78% of patients with LCH and often includes the skull (49%), hip/pelvic bone (23%), upper leg bone (17%) and ribs (8%).  Skin LCH is seen in as many as 50% of patients.  Lung lesions are seen in 20% to 40% of patients, while 30% of patients have lymph node involvement.

Symptoms depend on the location and severity of involvement.  It is usually diagnosed with a tissue biopsy, in addition to other testing, such as x-rays and blood studies. A biopsy of an involved site is necessary to make a definitive diagnosis.

While some limited cases of histiocytosis may not require treatment, for patients with more extensive disease, chemotherapy may be necessary.  Hematologists and oncologists, who treat cancer, also treat children with Langerhans cell histiocytosis.

Most patients with LCH will survive this disease.  LCH in the skin, bones, lymph nodes or pituitary gland usually gets better with treatment and is called “low-risk.”  Some patients have involvement in the spleen, liver and bone marrow.  This is called “high-risk disease” and may be more difficult to treat.  Some patients may develop long-term side effects such as diabetes insipidus, stunted growth, loss of teeth, bone defects, hearing loss, or neurologic problems; while other patients remain without side effects.  In a minority of cases, the disease can be life-threatening.

Certain factors affect the chance of recovery and options for treatment.  These factors include the extent of the disease, whether “risk organs” (liver, spleen, bone marrow) are involved, and how quickly the disease responds to initial treatment.

Patients with LCH should usually have long term follow-up care to detect late complications of the disease or treatment. These may include problems of skeletal deformity or function, liver or lung problems, endocrine abnormalities, dental issues or neurological and neurocognitive dysfunction. Read more about Permanent Consequences and Late Effects of LCH.

The Histiocytosis Association works closely with the Histiocyte Society, which is dedicated to studying the histiocytic disorders.  Through this unusual partnership, understanding of this disease has greatly increased, and survival rates and quality of life continue to improve.

Symptoms

Langerhans cell histiocytosis (LCH) may be limited to only one part of the body, such as a bone, or it can involve many organs.  The disease may be more serious in young infants or if “risk” organs such as liver, spleen, or bone marrow are involved. When LCH affects certain bones in the skull, the patients can be at higher risk of developing diabetes insipidus and/or neurological complications.

The following symptoms may indicate disease involvement but are not necessarily diagnostic of LCH.  This disease varies greatly from patient to patient, and some but not all of these symptoms may be present.

  • Skin
    Scaly, waxy rash or lesions, hair loss, diaper rash, oozing, tenderness.
  • Bones/Single or Multiple Sites (skull, bones around eyes, back bones, extremities, ribs, pelvis, feet/toes/fingernails/hands/fingers).
    Bone pain, lumps, headaches, fracture, limp, inability to walk, collapse of disc.
  • Bone Marrow
    Low blood counts (red blood cells, white blood cells, and platelets/clotting cells), increased infections, easy bruising.
  • Gastrointestinal Tract (stomach/intestines/colon)
    Abdominal pain, yellow skin, vomiting, diarrhea, blood in stool, weight loss, bleeding from the throat, child's growth falls below the standard expectation.
  • Liver/Spleen
    Enlarged liver, swelling of abdomen, pain, abnormal liver blood tests.
  • Endocrine System (pituitary gland/diabetes insipidus, hypothalamus, thyroid gland)
    Excessive thirst, excessive urination, dehydration, fatigue, sweats, temperature changes, weight gain, weight loss, short stature/growth failure, early or delayed/absent puberty.
  • Lung
    Chest pain, shortness of breath, difficulty breathing, collapsed lung, cough, weight loss, fatigue, coughing up blood.
  • Brain/Central Nervous System
    Diabetes insipidus, headaches, dizziness, seizures, blurred vision or loss of vision, difficulty walking, abnormal protrusion of eyeballs, difficulty swallowing or speaking, behavior changes, hot flashes, temperature variations, vomiting.
  • Mouth/Jaw/Gums
    Pain and swelling of face, loosening or loss of teeth, “floating” teeth, mouth ulcers, swollen or bleeding gums, swollen lymph nodes in neck.
  • Ears
    Loss of hearing, discharge from ear canal, redness, cysts.
  • Eyes
    Difficulty seeing, bulging of eyeballs.
  • Lymph Nodes (neck, groin, armpits)
    Enlargement, tenderness.  If the enlargement surrounds the respiratory area, it can result in cough, dyspnea, or turning blue.
  • Ovaries
    Pelvic pain, change in menstrual cycle.

The organs and tissues most commonly involved are the bones (including eye bones), skin, lymph nodes, bone marrow, lungs, hypothalamic-pituitary, spleen, liver and digestive tract.  Involvement of more than one system is common.  For example, bones can be affected alone or as part of multisystem disease.  Lymph nodes and skin involvement also can be either single-system disease or part of multisystem LCH.  Young infants with skin involvement should be followed closely by a knowledgeable physician, as some cases can spread to vital organs and quickly become life-threatening.  Central nervous system involvement (CNS), including the pituitary, is often part of systemic disease, although there are cases in which diabetes insipidus is the first presenting symptom.

It is important to remember that symptoms alone do not diagnose LCH, and a biopsy of an involved site is necessary.  Thus, it is important to consult a physician to receive an appropriate workup and accurate diagnosis.

Diagnosis and Treatment

The diagnosis of LCH is made following a biopsy of the affected tissue.  A small piece of the tissue is obtained so that it can be viewed under a microscope by a pathologist.  If the cells in the tissue have certain characteristics such as Birbeck granules (small tennis racket shaped membrane-bound granule) , and expression of specific proteins, the diagnosis of LCH can be made.  This procedure can be performed on any location but usually is done on the skin, bone, lymph nodes, liver, lung or bone marrow.

In addition, the following tests may be performed depending on particular symptoms in the child.

  • Physical examination and history: Recording of height, weight, temperature, pulse, family history, history of symptoms, past illnesses, etc.
  • Neurological examination: Testing of ability to walk, muscle testing, coordination, and cognition.
  • Complete blood count (CBC): Checking levels of red blood cells, white blood cells, and clotting cells.
  • Blood chemistry tests: Studies for kidney, coagulation, thyroid and immune function; abnormal level can be a sign of disease.
  • Liver function tests: Checking blood levels of substances released by the liver; an abnormal level can be a sign of disease in the liver.
  • Urinalysis: Testing the amount of red cells, white cells, protein and sugar in the urine.
  • Water deprivation test: Checks how much urine is made and whether it becomes concentrated when water is withheld; used when diabetes insipidus is suspected.
  • Bone marrow biopsy: The removal of bone marrow, blood and a small piece of bone by inserting a hollow needle into the hipbone; the sample is studied under a microscope to look for signs of LCH.
  • X-ray: Performed of the lungs or the bones to determine if there are abnormalities.
  • Bone scan: A scan for bone lesion in which a small amount of radioactive material is injected into a vein, collects in any abnormal parts of the bones and is shown on a scanner.
  • CT scan: For this x-ray dye may be injected into a vein or swallowed to help find any abnormalities; the scan takes a number of detailed pictures at different angles inside the body.
  • MRI: Using a substance called gadolinium injected into a vein to highlight areas of disease involvement, this scan then takes a number of detailed pictures inside the body.
  • PET scan: A small amount of radioactive sugar is injected into a vein, and diseased cells show up brighter on the scanner.
  • Ultrasound: High-energy sound waves are bounced off organs and tissue and make echoes, which form a picture of the internal body.
  • Endoscopy: When involvement of the digestive tract is suspected, a tube is passed into a body opening such as mouth or rectum to look at internal tissue; often, biopsies are also taken at the same time.

Treatment depends upon the individual patient and is planned after thorough testing to determine the extent of disease. In some cases with limited or single organ involvement, LCH may regress on its own without treatment. In others, minimal treatment such as steroids, NSAIDS (anti-inflammatory drugs), or even surgical removal will result in a positive outcome. Low-dose radiation may be helpful for some situations. In patients with more extensive disease, systemic chemotherapy is most often necessary. Several drugs and combinations have been shown in clinical trials to give excellent outcomes with minimal side effects. These drugs include steroids (prednisone), vinblastine, vincristine, etoposide (VP-16), methotrexate, cytosine arabinoside (Ara-C) and 6-MP. For patients with severe disease that progresses and is not responsive to initial treatment, chemotherapy with 2-CdA, alone or in combination with Ara-C, thalidomide or ultraviolet light (PUVA) for patients with only skin disease have been reported to have activity. Steroid or other types of creams may also help limited skin disease. In very rare cases, liver, lung, or even bone-marrow transplant has been necessary for recovery.

The goal of an overall treatment plan is to use as little treatment as possible to keep the disease under control and allow it to heal by itself.

Permanent Consequences

More recent advances in research and treatment of histiocytic disorders have provided a high survival rate for patients with this disease. At the same time, as more patients have been followed long-term, the risk for permanent consequences has become more obvious. It is now known that survivors can have significant consequences related to the disease and/or its treatment, sometimes following long-term remission. Most of these issues tend to be directly related to sites of original disease involvement and may affect quality of life. It is believed that more than half of patients will develop permanent consequences.

Also known as “late effects,” some consequences such as neurologic symptoms may not show up until 10 or more years after diagnosis, while other consequences such as diabetes insipidus can occur when histiocytosis is diagnosed, or even before. For this reason, “permanent consequences” has been suggested as a better term than “late effects.” Although some consequences such as tooth loss, bone defects, and scarring of the skin may be the result of surgical treatment, it is believed that the disease process itself is responsible for most of the effects.

Permanent consequences occur more often with multisystem patients but are also seen in patients with single-system disease at diagnosis. In one study, over 70% of multisystem LCH patients had one or more permanent consequences, compared to 24% of single-system patients. Children are more at risk to develop consequences because the disease can interfere with growth and development, and the consequences have a longer time to develop.

Some examples of permanent consequences include:

  1. Diabetes insipidus (DI)
  2. Stunted growth/failure to achieve sexual maturity
  3. Defects of bone/skull defects/facial asymmetry
  4. Loss of spinal height
  5. Loss of teeth/part of jawbone
  6. Bulging of the eyes
  7. Hearing loss
  8. Scarring of the skin
  9. Scarring of the liver
  10. Scarring of the lung
  11. Secondary cancers
  12. Neurologic/cerebellar problems, which can include:
    • Poor coordination/difficulty walking
    • Bad handwriting
    • Tremor/abnormal eye movements
    • Difficulty with balance/unsteadiness/clumsiness
    • Problems with speech and/or swallowing
    • Loss of short-term and/or long-term memory
    • Learning difficulty/poor school performance
    • Difficulties with concentration/attention/processing
    • Lower IQ score
    • Organizational difficulties
    • Behavior changes including aggression, eating disorders, depression, and difficulties with interpersonal relationships

The exact incidence of diabetes insipidus (DI) is not known, but it is believed to be in the range of 5% to 50% of LCH patients, depending on the location and extent of disease. The risk of developing DI in patients with multisystem LCH is 4 to 6 times greater than those with single-system disease. Patients with skull, facial, and/or eye bone lesions are at much higher risk of developing DI, and this risk is increased further if the disease remains active for a longer period or if it recurs. Although once established, diabetes insipidus cannot be cured, it can be successfully treated with a hormone called DDAVP.

Stunted growth is the most common endocrine abnormality and occurs in approximately 10% of children with histiocytosis. It was shown in one study to occur in 43% of patients who had diagnoses of both LCH and diabetes insipidus. Stunted growth can be successfully treated with daily injections of growth hormone, usually for as long as the child is growing. This treatment appears to be safe and effective and is not associated with an increased risk of disease reactivation.

Orthopedic problems from lesions of the spine, leg bones, and arm bones are one of the more common consequences and may be seen in 20% of patients. These problems include collapse of the vertebrae, instability of the spine that may lead to abnormal spinal curvature, decreased spinal height, fractured bones, and inequality of leg length. In addition, since the skull and facial bones are frequent sites of lesions, abnormalities and asymmetry of the face may occur. Some bone/facial abnormalities can be corrected by orthopedic or cosmetic surgery.

Dental problems with loss of teeth have been a significant problem for some patients, either directly related to disease affecting the jaw or related to aggressive surgery for jaw disease. The potential for restoration/cosmetic repair can be discussed with a knowledgeable physician. Residual eye bulging can affect one or both eyes. Hearing loss was found in one study to affect 16% of children treated for LCH. Of those with CT or MRI abnormalities of the mastoid, 59% had hearing loss. Inner ear involvement has been known to cause loss of balance. Hearing aids or surgically inserted electronic hearing devices (cochlear implants) may be necessary.

Liver disease may lead to scarring and destruction of the liver and, in rare cases, liver failure which may require transplantation. Lung disease is believed to occur in less than 10% of patients, causes scarring and damage of lung tissue, and can result in long-term poor lung function with a higher risk for infections, shortness of breath, and lung collapse. In cases of severe damage, a lung transplant may be necessary for survival. Permanent damage, however, is less common in children, whose lung tissue can more easily regenerate. Patients with a history of lung involvement may have a lifelong susceptibility to lung disease associated with cigarette smoking.

Patients with histiocytosis have a slightly higher chance of developing secondary cancers when compared to the unaffected population; secondary cancers could include leukemia, brain tumors, and cancer of the lung, liver, bone, lymph nodes, and eyes. It has not been determined whether this is caused by treatment or a genetic predisposition. Cancer can occur at the same time as histiocytosis or can occur years afterwards.

Neurologic problems with cognitive deficits, behavioral disturbances, and neuromotor dysfunction, also known as central nervous system (CNS) involvement, are reported to affect at least 10% of all LCH patients (19% of all multisystem patients). (For other histiocytic disorders, studies of greater numbers of patients are necessary to better define how often this occurs.) It is believed that this phenomenon is more frequently recognized now that more patients with histiocytosis are being followed long-term. It is characterized by symptoms in the brain that may not manifest until 10 or more years after initial diagnosis. Although this is usually seen on MRI scans, it may occur when there are no abnormal findings on MRI. The CNS complications can remain stable for years or can be progressive and become debilitating. No effective treatment has yet been developed; however, various forms of rehabilitation and teaching assistance can be helpful for these patients. These include assistance with learning and life skills; education about permanent consequences; teaching of repetition, reinforcement, and organizational skills; and placement of school/job accommodations. While the neurologic issues cannot be reversed, caregivers can provide tools that will help the patient increase his/her level of success.

In addition to compromised physical/cognitive function, histiocytosis survivors may experience quality-of-life issues such as anxiety/fear about possible relapse, sadness, anger, and depression. These feelings may be especially strong before follow-up visits, on illness-related anniversaries, or with onset of symptoms not related to the disease. For many people, these feelings will go away over time, while others may need psychological or psychiatric support. Finding a supportive network of other histiocytosis survivors can also be helpful.

  • On-line: You can subscribe to receive our emails so that you receive our newsletters, and you will also receive important announcements regarding the latest information and research developments on the histiocytic disorders. The Association also maintains a Facebook page and private Facebook group for families and patients with this disease.
  • Local support: The hospital where you or your child is being treated may have a support group for survivors of histiocytic disorders, rare diseases in general, or even cancer. Establishing face-to-face relationships with others going through similar experiences can be helpful.

Because of the possible impact of permanent consequences on school/job performance, ability to lead an independent life, and overall quality of life, it is important that the patient be evaluated and followed long term, especially those with multisystem disease. Early recognition of any deficit will be important, so that appropriate rehabilitation and assistance can be planned and put into place.

After years of research and discussion among researchers, there are still considerable gaps in the understanding of histiocytosis and its neurological complications. Some authorities believe it is a process separate from disease activity, and others believe that early, effective therapy may prevent or reduce the complications.

In order to make further progress in this field, the Histiocyte Society has developed a clinical trial/study called LCH-IV which opened for registration in 2012 and is on-going. This includes new guidelines for diagnosis and treatment of CNS LCH, including repeated MRIs, standardized neurologic evaluation, and neuropsychological tests for all patients with CNS disease. The study will test whether longer therapy for active disease will reduce the rate of reactivation and development of complications. You may consult your health care provider to find out about possible treatment options.

If you are a histiocytosis survivor with permanent consequences, it will be important to educate yourself about available resources and stay updated about the latest research findings. This information will help you make informed decisions and play an active role in acquiring the best support and services available. In doing so, you will create the best chance for a successful outcome.

FAQ

What causes LCH?

To date, the cause has not been determined. Multiple potential causes have been explored, including viruses, molds, infections, genetics, geographic location, racial clustering, seasonal changes, and environmental exposure. Results of these studies are still insufficient to provide a definitive answer. Further studies are needed. Scientific discussions on the definition of LCH continue to be debated in terms of its classification as either an immune dysfunction or a rare cancer (neoplastic and malignant or not malignant). However, the National Comprehensive Cancer Network recently released Guidelines indicating it as a "rare cancer".

Is there a cure for LCH?

While some patients go into remission and may live normal lives with or without treatment, we usually don’t use the term “cure” with this disease. No specific amount of time without active disease has yet been established for adults to determine when a patient is considered to be cured.

What is considered to be remission?

Complete remission means that there is no evidence of disease, whereas partial remission means that most of the signs and symptoms of LCH are gone, but some still remain. Doctors use the term response and “non-active” to describe patients who are free of symptoms and signs of LCH. Usually a cure is linked to being in remission for a certain period of time. There is no established period of “non-active” disease before LCH is considered cured, but the chance for recurrence is low after five years from end of treatment.

Where did LCH get its name?

In 1868, the German pathologist Paul Langerhans discovered a type of white blood cell which eventually came to bear his name. The various manifestations of LCH were previously known by a number of different names (histiocytosis-X, eosinophilic granuloma, Letterer-Siwe disease, Hand-Schüller-Christian syndrome, etc.). In 1983, it was suggested that this disorder be named “Langerhans cell histiocytosis,” to recognize the key role of the Langerhans cell in all of the different manifestations. This name was later approved by the scientists comprising the Histiocyte Society.

Is LCH a rare cancer?

There has been much discussion concerning whether or not Langerhans cell histiocytosis (LCH) is considered a cancer. The discovery of gene mutations, such as BRAF, in LCH has raised the possibility that LCH is a disease that bears some similarities to cancer, even if it is not a cancer in every way. However, the National Comprehensive Cancer Network recently released Guidelines indicating it as a "rare cancer".

Is LCH fatal?

It can be. A small percentage of patients, most often those with multisystem risk-organ involvement that is unresponsive to treatment, may not survive.

What are the different therapies/treatments commonly used to treat LCH?

Treatment is based upon the organ(s) involved, extension of disease, and in some cases, age of the patient. In some cases, no treatment is necessary. Others may respond to surgical removal, steroids, or anti-inflammatory drugs (NSAIDs). Low-dose radiation is helpful in some situations, but should be carefully used in children. There are patients who require chemotherapy such as vinblastine, vincristine, etoposide (VP-16), methotrexate, cytosine-arabinoside (Ara-C), and/or 6-MP. In patients with severe disease that does not respond to initial treatment, stronger chemotherapy combinations may be used. Ultraviolet light (PUVA) may be helpful for limited skin disease. In very rare instances, a transplant of the liver, lung, or bone marrow may be necessary.

Can an infant be tested at birth for LCH?

A biopsy of the affected tissue, rather than a blood test, is required for diagnosis and would therefore not be appropriate as a routine test unless this disease is suspected.

Is LCH hereditary?

Although there are rare families (less than 2% of all cases) documented with more than one member diagnosed with LCH, at this point, there is no clear evidence that this disease is inherited.

Does LCH spread?

The exact mechanism that causes lesions to appear in other locations in the body is not yet known. However, some researchers believe that abnormal LCH cells travel through the blood like tumor cells and “seed” in different locations, creating new lesions. Others believe that there are different manifestations of the same disease.

Is there a blood test to diagnose LCH?

LCH is diagnosed with a biopsy of the affected tissue. Blood tests may be done to help determine the extent and/or severity of involvement, but blood tests are not diagnostic of the disease.

Is it true that LCH is mostly a childhood disease?

Not necessarily. Although we do know the incidence of childhood LCH, there is not enough data to determine how many adults are affected by this disease.

With the diagnosis and treatment of LCH, is my child more likely to develop cancer?

Although this occurs rarely, LCH is associated with cancer more often than would be expected by chance. This can occur before, during, or after the diagnosis of LCH. Some cancers following the LCH diagnosis might be related to the treatments given. When cancer occurs before LCH, the histiocytosis might represent a “reaction” to the cancer itself.

What are permanent consequences of LCH?

Permanent consequences are also known as late effects of LCH, although they can occur early on. They are believed to be mostly related to the disease rather than treatment and include:

  • Diabetes Insipidus
  • Stunted growth
  • Bone abnormalities
  • Hearing loss
  • Neurological problems, including poor coordination, unsteadiness, difficulty with handwriting, abnormal eye movements, problems with speech, learning disabilities/decreased school performance, memory loss, and behavior difficulties.
  • Loss of teethLoss of spinal height
  • Delayed puberty
  • Bulging eyesScarring of lungs
  • Scarring of liver/cirrhosis
  • Secondary cancers
What are the chances my child will develop permanent consequences?

One or more permanent consequences are reported in an estimated 50% of overall LCH patients, making long-term follow-up a necessity. Severity and type depends on the affected organs, number of lesions, and the treatment administered. Read more about permanent consequences of LCH.

What is Neurodegeneration?

Neurodegeneration is progressive loss of brain function. It occurs as a permanent consequence in some cases of LCH.

Can neurodegeneration be prevented/reversed/treated?

It is not currently known whether neurodegeneration can be prevented. It is believed that neurodegeneration cannot be reversed, and there is controversy whether patients with neurodegeneration can be successfully treated. There have been some promising results with Ara-C but more extensive scientific studies are required.

What is “PLCH?”

PLCH (pulmonary Langerhans cell histiocytosis) is LCH of the lung. It affects mostly adults who smoke and often occurs without other LCH involvement.

What kind of physician should we use?

A pediatric oncologist most often provides primary treatment and coordinates a team of health professionals, which may include, but are not limited to, the primary care physician, pediatric surgeon, radiologist, pediatric nurses, and social workers. Find a Physician in your area today.

What should I look for in a doctor?

LCH is most often followed and treated by an oncologist, who specializes in cancer-type illnesses. The level of experience with LCH can vary widely among physicians. If he/she is not knowledgeable about this disease, a willingness to learn more and consult with the experts can go a long way. Other qualities to look for are accessibility and good communication skills with you, as well as other physicians.

Will my child grow normally?

Most children with LCH do grow normally; it is believed that growth hormone deficiency affects approximately 10% of children with this disease.

What is the treatment for stunted growth related to LCH?

If stunted growth is due to growth hormone deficiency, which occurs in approximately 10% of LCH patients, it can be treated with daily injections of growth hormone under the supervision of an endocrinologist. The treatment is usually prescribed as long as the child is growing.

Is growth hormone treatment safe?

Growth hormone replacement appears to be safe and effective in LCH patients and is not associated with an increased risk of disease reactivation.

Are immunizations safe?

This is a controversial topic. Most researchers believe that children should wait 3-6 months after chemotherapy and/or steroids to take regular vaccinations, especially live-virus vaccinations such as influenza, MMR, and polio. There is no proof that vaccinations trigger LCH. It is important to consult with your physician regarding your child’s particular case.

What type of LCH involvement puts my child at higher risk for developing Diabetes Insipidus?

CNS risk lesions have been identified as lesions affecting the facial bones or the front or side(s) of the skull. These include the temporal (around the temples), sphenoidal (behind the sinuses), ethmoidal (between the eyes), zygomatic (cheekbone), and orbital (eye socket) bone with tumor extension into the brain. Involvement of these bones increases the risk of developing Diabetes Insipidus, which is the hallmark of CNS disease.

What are the chances my child will develop diabetes insipidus?

DI occurs in as many as 25% of all patients and as many as 50% of patients with multisystem LCH.

What are risk organs?

Risk organs include bone marrow, spleen, and liver and are more difficult to treat than other sites of involvement with LCH.

What happens if my child has a recurrence or does not respond to treatment?

If disease recurs after treatment, repeat of the same chemotherapy is often used but will depend on which organs are involved and the length of time since previous treatment. If LCH recurs immediately after therapy or does not improve with therapy, alternative treatment such as 2CdA, Ara-C, vincristine, methotrexate, or bisphosphonates may be used. Rare cases of risk-organ disease that is progressive and not responsive to treatment may require a RIC stem-cell transplant. Always consult a specialist!

What is reduced-intensity conditioning (RIC)?

Reduced-intensity conditioning is a less toxic pre-transplant therapy with the goal of suppressing the patient’s immune system enough so that it will accept donor stem cells while reducing the side effects of high dose chemotherapy The RIC may be used in some HLH patients, as well as some LCH patients with severe, resistant disease.

What are the side effects of vinblastine?

Side effects include:

  • Low blood counts (with higher risk of infection).Mild nausea/vomiting/constipation
  • Easily sunburned
  • Skin irritation at site of injection
  • Thin or brittle hair
  • Fatigue
  • Bone pain
  • Hoarseness
  • Seizures
  • Shortness of breath
  • Nerve damage (especially in adults) with tingling, numbness and/or pain of the hands and feet
What are the side effects of prednisone?

Side effects include:

  • Increase in blood sugar
  • Increase in appetite
  • Heartburn
  • Bloating/fluid retention/weight gain
  • Difficulty sleeping
  • Mood/behavior/personality changes
  • Higher risk of infection
  • Slow wound healing
  • Muscle weakness
  • Loss of bone calcium
  • Increased hair growth

More unusual side effects may include:

  • Problems with vision/eye pain
  • Seizures
  • Confusion
What are the side effects of methotrexate?

Side effects include:

  • Mouth sores/swollen, tender gums
  • Nausea/vomiting/diarrhea/decreased appetite
  • Low blood counts
  • Dizziness/drowsiness
  • Headache

More unusual side effects may include:

  • Blurred vision or loss of vision
  • Seizures
  • Confusion
  • Weakness/difficulty moving one or both sides of the body
  • Loss of consciousness
  • Lung damage
  • Allergic reactions
What are the possible side effects of 6-MP (mercaptopurine)?

More common signs/symptoms include:

  • Low blood counts (red cells, white cells, and clotting cells)
  • Nausea/vomiting/decreased appetite
  • Headache
  • Weakness/fatigue/achiness
  • Rash/darkening of the skin
What are the possible side effects of 2-CdA (cladribine/leustatin)?

More common signs/symptoms include:

  • Flu-like symptoms (Fever, chills, headache, fatigue, nausea/vomiting)
  • Decreased appetite
  • Constipation
  • Low blood counts (red cells, white cells, and clotting cells)
  • Skin rash/redness/itching

What Do I Do Now?

A new diagnosis of Langerhans cell histiocytosis (LCH) can bring feelings of being overwhelmed, bewildered, scared, angry, sad, disappointed, helpless, and sometimes even feelings of guilt.  It is a time filled with unknowns, change, and new people and situations.  Most parents feel ill-equipped to understand what is happening to their child and how to navigate through the illness to recovery.  There are, however, strategies and resources that can help you, your child, and other family members get through the uncertain times that lie ahead.  One step at a time, you can gather information, create a support system, learn how to cope with stress, and become a strong advocate for your child as part of the medical team.  The following tips and suggestions are provided to help guide you through this journey toward your child’s good health.

Choosing a Doctor

Langerhans cell histiocytosis in children is considered a systemic illness; especially in cases where the disease is found in more than one system within the body.  Some caregivers may prefer to consult several specialists, depending on the different locations of symptoms.  In this case, it is helpful to have one physician coordinate your care.  An oncologist is usually the most appropriate choice.

Make sure that your child’s doctor is someone you can trust and with whom you can communicate.  Important qualities to look for in a doctor are:

  • feeling as though you are heard,
  • being given the opportunity to ask questions, and
  • feeling respected.

If you are unsure about your physician, it is reasonable to schedule another appointment to discuss your concerns. While it is ideal to find a physician experienced and knowledgeable about LCH, it is not always possible to find one who is nearby. If this is the case, ask the physician if he/she is open to a consultation with a knowledgeable physician and is willing to learn more about the disease. The Histiocytosis Association maintains a listing of doctors in a Physician Directory who have agreed to perform consultations and/or second opinions or you may call +1 856-589-6606 for contact information of other physicians in your area.

Call your insurance company to find out whether your plan will cover visits to the physician you are considering. Oftentimes your child’s Team Social Worker and/or the hospital financial counselor can help smooth out insurance problems. Ask for help from a trusted friend if you feel overwhelmed in dealing with insurance issues.

Sharing Information

Talking with your child:  If your child is old enough to understand, sharing information can help him/her build trust in both you and his/her medical caregivers.  It can also help your child cooperate with treatment and become a part of his/her medical team.

  1. Use words and ideas that are appropriate for your child’s age. 
  2. Share information at a level that is in keeping with his/her ability to understand.
  3. Use your child’s questions as a guide to what he/she wants to know. 
  4. Encourage your child to talk about his/her fears and concerns. 
  5. Remind your child how much you love him/her.

If you are uncertain about how to talk to your child, your healthcare team can be of assistance.

Talking with family and friends:  In the days and weeks following diagnosis, extended family and friends will need to be notified and periodically updated.  However, explaining your situation multiple times can be exhausting and time consuming. Some patients and families find that the journaling is therapeutic and can provide an easy way to track their history and progress.

Talking with your child’s siblings:  When your child is diagnosed with LCH, everyone in the family is affected, including brothers and sisters. They may feel anxious, lonely, resentful about the attention their sibling is getting, guilty about being healthy, or even responsible for the illness.

  1. Give information that is appropriate for your child’s age.
  2. Explain that no one did anything to cause the illness, and reassure them that it is not contagious. 
  3. Give them a chance to talk about how the illness is affecting them.  Be willing to answer questions. 
  4. Remember that it will be easy for them to feel overlooked and unimportant, so it will be important to show that you love them and are proud of them.

Talking with your child’s school:  Contact your school principal/counselor regarding your child’s diagnosis. You may want to take brochures and other basic information about LCH.  Provide a written description of the health needs, such as what medications may need to be given at school, dosages, and times, signed by your physician.  (Some schools will provide the form to be filled out and signed by your child’s physician.)  Ask for a plan to take care of your child’s needs at school.  You may need to provide written permission for the school to communicate with your physician, in case of an emergency.

Getting Organized

Appointments:  A calendar is a useful tool for remembering appointments and planning for changes to your established schedule.  Calendars that show a week at a time also provide room on each day to record additional brief notes and reminders.

Medical Information:  While some basic medical notes can be kept in a calendar, some parents may choose to enter medical information in a laptop or keep a separate notebook.  Be sure to date all entries.  This information will be especially helpful when a new or different caregiver is involved.  Examples that you may want to keep track of include:

  1. Results of various tests.
  2. A listing of allergies.
  3. A listing of medications and dosages. 
  4. Names and phone numbers of your medical care team.  
  5. Health information, such as your hospital number, social security number, and insurance information.
  6. Records of what was discussed during a medical visit/phone conversation and by whom.
  7. Notation of changing symptoms.

Adults with LCH may find it helpful to collect and organize medical records, starting as soon as possible after diagnosis.  Although the original reports must remain in the physician or hospital file, you are legally entitled to copies of your records. You must submit a signed request for each physician’s office and the hospital.  By keeping all records in one place, you can easily share these with other health care providers that you may see in the future. Follow this link to read more about obtaining your medical records.

Insurance

If you have health insurance, it’s important that you know what your plan covers.   Read your policy carefully to understand the health and medical services covered. Find out the portion of medical expenses you'll be responsible for paying.  When you have questions or there are things you don’t understand, reach out to other experts available to you, such as the human resources personnel at your place of employment or financial counselors at your medical treatment center.  If filing and tracking claims feels overwhelming, you may want to ask a trusted friend or relative to assist in managing your insurance issues. 

When you call the insurance company, ask to work with one case manager. This may help simplify the process by having one person that knows your needs and can manage your claims. If possible, communicate with the same person on an ongoing basis.  Remember to keep a journal of all encounters. 

If you don’t have health insurance, if coverage is not adequate, or if you are not able to get insurance because of your pre-existing condition, you may qualify for your state’s high-risk insurance pool. You can obtain more information about whether your state participates at the National Association of State Comprehensive Health Insurance Plans website.  If your state does not participate, you may qualify for the federal high-risk insurance pool.  For more information, contact the U.S. Department of Health and Human Services.

Creating a Support Network

Online:  You can subscribe to receive our emails so that you receive our newsletters, and you will also receive important announcements regarding the latest information and research developments on the histiocytic disorders. The Association also maintains a Facebook page and private Facebook group for families and patients with this disease.

Local support:  The hospital where your child is being treated may have a support group for parents of children with histiocytic disorders, rare diseases in general, or even cancer.  Establishing face-to-face relationships with parents going through similar experiences can be helpful.

The Association sponsors parent and patient Regional meetings and webinars, which are held in various locations around the U.S. and hosted by Association staff and volunteers. They are a good opportunity to meet other families and patients, learn from expert physicians, receive and give emotional support, and share practical coping skills while also providing a time to relax, knowing you are with people who understand.

Fundraising events for histiocytic disorders are another way to make connections with families in your region.  A listing of dates and fundraising events is provided on the Upcoming Events page.

Educate Yourself

Self-education about LCH is an important part of advocating for your child.  It will help you to make informed decisions about your child’s care and play a more active role in his/her recovery.

The Association website provides education on a number of topics, including disease information, family resources, and past and ongoing research projects.  The Histio Resource Directory provides an extensive listing of global, national, and state-by-state resources for patients and families.  Some of the resources listed are informational, while others are service-based.  A listing of past and current research projects funded by the Association can be found on the Grant Awards page, providing a glimpse into the past trends and current progress of research into the histiocytic disorders.  The Disease Information section of the website features detailed, reliable information on all of the histiocytic disorders.  This can be printed out and shared with medical caregivers, family, and friends if needed.

The Internet is a good source of information about LCH and the treatment options, but the amount of information can be overwhelming, and the information is not always reliable. Some of it, in fact, is inaccurate.  Reliable information is more likely to be found in more current documents that are free of grammatical and spelling errors, appear to be objective, are free of advertisements, and clearly state their sources.

Advocating for Your Child

It is essential to take an active role in your child’s health care.  However, many caregivers have little experience being advocates when they first find out that their child has a rare disease.  The following is a list of essential tips for becoming a successful advocate:

  1. Learn about LCH and become acquainted with the basic medical terms.  Knowledge is empowerment.
  2. Know the warning signs that mean you may need emergency help.
  3. Know who to call in case of an emergency, and keep phones numbers handy.
  4. Keep a list of healthcare members involved in your medical care, along with contact information.
  5. If possible, take a companion (family member or friend) along on important medical appointments.  The companion can help with remembering details of what was said and may assist by taking notes.Write down your questions before entering appointments or meetings and write down further questions as you think of them during the meeting.  Don’t be afraid to ask these questions.  This will be an important step in beginning to understand more about the disease.  Medical information is often confusing and the language used by medical professionals is not easily understood, especially during stress.  Whenever someone uses a word that you don’t understand, stop the conversation for a minute and ask the person to explain. 
  6. Keep a healthcare notebook with a listing of allergies, medications, symptoms, and communications with healthcare providers.
  7. Find out about resources that the hospital provides, such as a social worker or patient representative.  They can often assist with transportation costs, temporary housing if needed, parking fees, insurance issues, counseling, and other services. 
  8. Be persistent in getting the care you feel that your child needs.  Don’t hesitate to ask for what you need, and if you do not feel responded to, ask again or ask someone who will respond. 

Trust your intuition.  It can be a powerful decision-making tool.  You know your child better than anyone else.

Self Care

Caring for a sick child can be stressful and may take a toll on your physical and emotional health. Recognizing your own needs for support, help, health, and comfort can be difficult when you’re focused on your child’s needs, but it’s important to remember that caring for yourself is essential.  When your needs are taken care of, your child will also benefit.  Give yourself time for regular physical activity and rest.  Pay attention to signs of stress, and consult your physician if you need further help.

Printable Fact Sheets

Learn more about the different types of histiocytic disorders from these helpful fact sheets. Printing these for family and friends is a quick and easy way to teach them about the disease. More extensive information can be found in the Disease Information section of our website.

Choose from the following Fact Sheets: