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Tuesday, December 10, 2013
Is There A Genetic Linkage For Sarcoidosis?
My mother passed away with a dx of pulmonary sarcoidosis in 1969 at the age of 35. Her condition was such that as the disease progressed, the most severly affected lobes were surgically removed over a number of years. I believe she passed when pneumonia hit the last remaining functional lobe. (I recall as well severe skin rashes which were charaterized at the time as "shingles". She also developed grand mal seizures.) Is this type of surgery uncommon for this diagnosis today? Are fatalities rare? And finally, do her offspring need to be concerned about a genetic link? We are all in our 50`s now, with no symptoms. Thank you!
The treatment of sarcoidosis in 1969 was less evolved than it is today. Some people (less than 5% of cases) do develop severe, life-threatening disease of the lungs or other vital organs (heart, brain) despite treatment. Organ transplantation is an option for some of these patients.
A minority of sarcoidosis patients die of progressive disease. Although the overall risk of a person developing sarcoidosis is relatively low (about 1 in 10,000), the odds are increased in family members of an affected individual compared to those who have no relatives with the disease. Most cases of sarcoidosis are diagnosed in 20- to 50-year-olds, but there are exceptions. Because you and your family members do not have symptoms, it is unlikely that you have the disease.
Elliott D Crouser, MD
Associate Professor of Pulmonary, Allergy, Critical Care & Sleep Medicine
College of Medicine
The Ohio State University