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Hermansky-Pudlak Syndrome (HPS)

What is Hermansky-Pudlak syndrome?

Hermansky-Pudlak syndrome (HPS) is a metabolic disorder that often leads to other conditions. As of now there are 10 forms of this syndrome, but further research may reveal more. It is the most common in Puerto Rico.

What are the symptoms of Hermansky-Pudlak syndrome?

Albinism is a major symptom of HPS, and affected individuals will see various levels of pigmentation. They also experience the vision problems associated with albinism as well. 

Another major effect is prolonged bleeding due to a platelet defect. This symptom leads to easy bruising, frequent nosebleeds, and unusual bleeding episodes. 

HPS can also lead to multiple other conditions, such as inflammatory bowel disease and pulmonary fibrosis

What causes Hermansky-Pudlak syndrome?

There are at least ten genes that are associated with this syndrome, all of which are needed to make four protein groups needed for the trafficking of lysosome-related organelles. These are necessary for the function of certain cells, like those in the lungs, those that produce pigment, and those needed for blood-clotting. 

How is Hermansky-Pudlak syndrome diagnosed?

Blood tests are a main way to diagnose this syndrome; doctors will look for platelets under a microscope. Genetic testing can be used, but as there are unidentified genes that may cause HPS, it is not always definitive. 

What are the treatments for Hermansky-Pudlak syndrome?

Multiple specialists may be required to treat all of the symptoms of HPS. Treatment is symptomatic; there is no one standard therapy for this condition. 

Where can I find out more about Hermansky-Pudlak syndrome?

HPS Articles