Medical Definition of Hermansky-Pudlak syndrome

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Hermansky-Pudlak syndrome: A group of genetic diseases characterized by a deficiency of pigment in the skin and eye, a bleeding tendency resulting from a platelet storage pool deficiency, and systemic disorders related to deficient function of lysosomes. Abbreviated HPS. Albinism that occurs in the eyes results in significant reduction in visual acuity. Pulmonary fibrosis and granulomatous colitis are known complications. The diseases are inherited as an autosomal recessive trait and are due to multiple different gene mutations. Diagnosis is made by examining blood platelets under an electron microscope or by genetic testing. There is currently no treatment for HPS. Also known as albinism with hemorrhagic diathesis, pigmented reticuloendithelial cells, and delta-storage pool disease.

CONTINUE SCROLLING OR CLICK HERE FOR RELATED ARTICLE
Reviewed on 10/30/2018

Health Solutions From Our Sponsors