Hermansky-Pudlak syndrome

Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). more...

The disease can cause poor functioning of the lungs, intestine, kidneys or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.

HPS can be caused by mutations in several genes: HPS1, HPS3, HPS4, HPS5 and HPS6. HPS type 2, which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene.

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