Identifying Familial Associations in Langerhans Cell Histiocytosis Using the Utah Population Database
Mark Fluchel, MD
Primary Children’s Hospital – Salt Lake City, Utah USA
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Langerhans Cell Histiocytosis (LCH) is a challenging and poorly understood disease characterized by a malfunctioning immune system, uncontrolled proliferation, and accumulation of Langerhans cells in normal tissues. LCH is notable for its variable clinical course. While some patients present with self-limiting disease, others suffer from an aggressive and potentially fatal multisystem illness requiring intensive chemotherapy.
The cause of LCH is not completely understood and there is even debate as to whether LCH can be categorized as a cancer or an autoimmune disorder. Most cases are considered sporadic, but there appears to be a subset of LCH cases that demonstrate a familial pattern. There is a strong association between LCH and cancer in individual patients, but there is very little data regarding the risk of cancer in relatives of patients with LCH. A link between other autoimmune diseases and LCH has been suggested. However, evidence for such a connection is anecdotal. The rarity of the disease and the scarcity of population-based studies limit our understanding of LCH.
At the University of Utah, we have at our disposal a very unique and powerful tool for population-based research that may help us add to our understanding of LCH. The Utah Population Database (UPDB) provides access to information on more than 7 million individuals in Utah dating back several generations. It is the only database of its kind in the United States and one of just a few such resources in the world. It includes medical records, demographic information, birth records, and death records, all of which are linked to an extensive set of Utah family pedigrees. Therefore, it is a valuable tool for genetic, epidemiological, demographic, and public-health studies.
We plan to use the UPDB to identify familial relationships between individuals with known LCH, and to determine the relative risk of cancers and of autoimmune disorders in the relatives of LCH patients. We also plan to collect and bank the DNA from our LCH patients. Having this DNA from patients that are included in such a powerful database will allow for the possibility of identifying genes associated with a risk of LCH in subsequent studies.