The Causes And Diagnosis Of Erdheim-Chester Disease

Age

Erdheim-Chester is a condition most often seen in adults. Although the first signs and symptoms are usually noticed between forty and sixty, it can occur at any age. Cases in the literature show a range from seven years old to eighty-four years old, with a median onset of fifty-three years. Several cases of young children with Erdheim-Chester disease, including a ten-year-old and fourteen-year-old, have been verified. The probability of mutations tends to increase as individuals get older.

Not only are individuals exposed to more radiation and chemical mutagens as time passes, but the immune system and DNA repair mechanisms that normally respond after mechanical, chemical, or radiological insults becomes less effective. The immune system function decreases sharply with advancing years, and cancer rates tend to increase in an inverse relationship. This may explain in part why the disease is usually seen in older adults.

Gender

According to the five hundred or so case studies of patients from around the world, this illness tends to strike men with a slightly higher frequency. The small number of cases make it difficult to determine if there is any sex-linked component for certain. It has been established it is not inherited and therefore not a sex-linked genetic disease. The mutations known to contribute to the condition involve genes common to both sexes. The cell signaling molecule BRAF is a key protein in all cells of both sexes. The reason for the slightly increased prevalence among males is not clear at this time.