Hermansky-Pudlak syndrome 1

Overview

Type of disease: Rare conditions

Hermansky-Pudlak syndrome 1 (HPS 1) is one of nine forms of Hermansky-Pudlak syndrome. It is characterized by oculocutaneous albinism, which is light coloring of the hair, skin, and eyes. Additionally, affected individuals may have decreased vision, involuntary eye movements, and high sensitivity to light. Other symptoms of HPS 1 include nosebleeds, bleeding gums, blood clots, and easy bruising. HPS 1 can also lead to other health problems such as pulmonary fibrosis (scar tissue in the lungs), kidney failure, or skin damage. HPS 1 is one of the most severe forms of the condition, and is most common in northwest Puerto Rico.

HPS 1 is a genetic condition caused by mutations (changes) in the HPS1 gene. We inherit our genes in pairs, one from each parent typically. HPS 1 is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one in four chance (25%) of having the disease.

Diagnosis is usually made by clinical findings, including light skin, light hair, and characteristics of vision and eye movement. Treatment depends on specific symptoms but may include the use of low vision aids to help with vision, contraceptives to limit menstrual periods, and in some cases, blood transfusions.

If you or a family member has been diagnosed with HPS 1, talk to your doctor about the most current treatment options. Support groups are also a good source of information.

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