Hermansky-Pudlak syndrome

Characteristics include, albinism, bleeding predisposition, iInflammatory bowel disease, and pulmonary fibrosis.

The type of albinism is a tyrosinase-positive form, which means that individuals may present with varied amounts of pigmentation.

Some persons may have light hair and fair features and be diagnosed with oculocutaneous albinism

Others may appear to have dark hair with albinism in their eyes only and be diagnosed with ocular albinism.

The visual impairment associated with the syndrome is a result of abnormal development of the retina and optic nerves.

Decreased visual acuity is frequently severe enough to be associated with legal blindness, photophobia, strabismus, and nystagmus.

Use of aspirin, ibuprofen and drugs that affect platelet function can make the bleeding tendency worse.

Hermansky-Pudlak Syndrome involves a bleeding disorder caused by a platelet defect, with absent dense granules.

PT,PTT and platelet levels are normal.

Bleeding time can be normal or prolonged, and bleeding can be minimal to life threatening.

The typical age of onset for HPS Inflammatory Bowel Disease is similar to the age of onset for Crohn’s, the teen years.

15 percent of people with HPS develop IBD.

In HPS type 1 and type 4 pulmonary fibrosis is a common.

An autosomal recessive disorder..

Prevalent in Puerti Rico with one in 60 people on the island carry the syndrome.

Worldwide the ncidence of HPS is somewhere between 1 in 500,000 to 1 in a 1,000,000.

The diisorder is so frequently undiagnosed.

May also occur with greater frequency in Japan and Switzerland.

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