Hermansky-Pudlak syndrome is a rare, hereditary disorder that consists of two characteristics: decreased pigmentation (albinism) with visual impairment and blood platelet dysfunction with prolonged bleeding. Some patients have lung fibrosis, colitis or an abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body. The most serious condition that occurs in certain genetic types of HPS is pulmonary fibrosis.
HOW IS HERMANSKY-PUDLAK SYNDROME DIAGNOSED?
Diagnosis of the same is usually done during infancy via series of molecular genetic testing along with checking for genetic mutations.
HOW IS HERMANSKY-PUDLAK SYNDROME TREATED?
Being a genetic disorder, the options available for treatment and cure are very limited. Experts advise that the patients or their parents should learn the complete information about Hermansky-Pudlak Syndrome and take all precautions to help avoid aggravation of the condition. Taking care of the dietary habits, staying away from some medications like Aspirin and so on, are all suggested as ways to keep the condition under check. Other treatment methods are still being researched.
DID YOU KNOW?
People with Hermansky-Pudlak Syndrome should always consult a specialist to treat this disease.