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Hermansky-Pudlak Syndrome: What is it?

By HERWriter
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What is it?

This oddly named, rare condition resulting from a genetic metabolic disorder causes albinism (lack of pigmentation in the skin), visual impairment, and platelet dysfunction that results in prolonged bleeding. Some forms of HPS include the build up of "ceriod," which is a wax-like substance. This build up is associated with inflammatory bowel disease, pulmonary fibrosis, and kidney disease.

Hermansky-Pudlak Syndrome is "autosomal recessive," which means that both parents have to be carriers for the condition to develop.

The condition earned its name from the two doctors who cared for the first two patients identified in Czechoslovakia in 1959 - Drs. Hermansky and Pudlak.

Who is at Risk?

Interestingly, the majority of HPS cases have been found in Puerto Ricans due to what's known as the "Founders Effect" - those people that traveled to that land from Europe brought the condition with them. It is estimated that 1 in 1,800-2,000 Puerto Ricans have this disease. One in every 20 people in northwestern Puerto Rico are carriers of the HPS1 gene while one in 60 are carriers of HPS3. The disease has also been located in a village in the Swiss Alps, and in people of Dutch, Turk, Pakistani, and Japanese descent.

Although this is a genetic disorder, some people have been known to develop the syndrome without any of the seven genetic defects being present. Researchers are continuing to try to find out why.

Characteristics of Hermanski-Pudlak Syndrome


Most people associate albinism with white skin, white hair, and oddly colored eyes. In fact, albinism comes in a variety of forms. Some may have light hair and features, others may have dark hair or may only show the albinism in their eye pigmentation.

Visual Impairment

People with HPS often experience visual impairment as the result of abnormal development of the retina and optic nerves. Some sufferers experience sufficient decreased visual acuity as to be declared legally blind.

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EmpowHER Guest

For more information about pulmonary fibrosis please visit our website: www.pulmonaryfibrosis.org Thank you for sharing this information.


Jennifer Bulandr
Director of Community Outreach
Pulmonary Fibrosis Foundation
www.pulmonaryfibrosis.org - Join us in finding a cure or treatment!

February 2, 2010 - 1:21pm
EmpowHER Guest

Thanks for covering HPS. I would add that we have an active patient group called the Hermansky-Pudlak Syndrome Network. Our Web site is www.hpsnetwork.org.

January 30, 2010 - 1:26am
HERWriter (reply to Anonymous)

Thank you for adding that. That site was actually one of my sources for information. I have cited it at the end of the article.

January 30, 2010 - 5:03am
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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.

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