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COVID-19 Information

The HPS Network is closely monitoring the rapidly evolving developments regarding COVID-19. The World Health Organization has officially declared COVID-19 as a pandemic. Read our PDF for more details.

What is HPS?

Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.

In some genetic types of HPS there is a lysosomal accumulation of ceriod lipofusion.  In other words, there is accumulation in the cells of a substance presently known as “ceriod”.  Ceroid is the name given to this substance because it means “wax like”.  In some individuals with HPS, ceroid accumulation may be associated with inflammatory bowel disease, pulmonary fibrosis, and kidney disease.

The severity of HPS ranges from very mild with few symptoms to severe and disabling.  Since HPS is an autosomal recessive disorder, both parents are carriers of the abnormal gene.

It was originally identified in two patients in Czechoslovakia in 1959, who were cared for by Dr. Hermansky and Dr. Pudlak.  It has since been identified in people around the world in nearly every nationality, however it is very prevalent among Puerto Rican people due to a “Founders Effect” on that island.