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Sunday, April 20, 2014
my girlfriend`s mother had pulmonary fibrosis, so did her grandmother. is there a way to determin how at risk my girlfriend and siblings are?
Presently, there is not a test to determine whether a person will develop familial (inherited) pulmonary fibrosis. Researchers at Duke University in Durham, North Carolina are currently very close to identifying genes responsible for familial pulmonary fibrosis, but it will be several years before patients will be able to undergo genetic testing as can be done with other diseases such as Huntington's Disease.
Given her strong family history, it would be advisable to have a baseline set of pulmonary function tests and perhaps a chest x-ray for comparison in the future in case she develops pulmonary symptoms later in life. She should also have an annual physical examination to check for "crackles" (an abnormal lung sound) and "clubbing" (an abnormality of the finger nails), both of which can be a marker of pulmonary fibrosis. A consultation with a genetic counselor can be very helpful; counselors can often be found at larger academic medical centers.
James N Allen, Jr, MD
Clinical Professor of Pulmonary, Allergy, Critical Care & Sleep Medicine
College of Medicine
The Ohio State University