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Hermansky-Pudlak Syndrome (HPS) is a rare type of albinism which is a result of a defect in one of the eight genes. Hermansky-Pudlak Syndrome is not a genetic disorder and it is mainly caused by three major disorders that consists of Albinism and eye problems, bleeding disorders and cellular storage disorder.
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?
There is no cure for Hermansky-Pudlak Syndrome. Chronic haemorrhages caused due to the accumulation of fat may be treated with vitamin E therapy and antidiuretic drugs. Preoperative pulmonology and hematology consultations may be needed for patients who are scheduled for surgery. Ophthalmologists must bear in mind the patient’s condition when treating eye related issues.
DID YOU KNOW?
The disease can cause dysfunctions of the lungs, intestine, kidneys or heart. The major complication of most forms of the disorder is pulmonary fibrosis, which typically exhibits in patients aged between 40–50 years. This is a fatal complication seen in many forms of HPS and is the usual cause of death from the disorder.