What’s Hermansky-Pudlak syndrome?

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Hermansky-Pudlak syndrome is a form of albinism first recognized in the 1950s by the two Czech researchers after whom it takes its name. There are several variants, involving decreased pigmentation, bleeding disorders, and lung problems. Treatment focuses on symptom management to keep the patient comfortable and may involve counselors from different medical fields. Additional complications can occur in patients with Hermansky-Pudlak syndrome, including heart, kidney, or bowel problems.

This condition is associated with a recessively inherited genetic mutation. People need two copies of the gene to express Hermansky-Pudlak syndrome, and the form it takes may depend on specific coding errors in the gene involved. Like other people with albinism, patients with this condition can have variable levels of decreased pigmentation; some may have brown hair and eyes, for example, while others may have cream colored skin and light hair and eyes. They also have vision problems associated with complications of albinism.

Bleeding disorders develop in patients with Hermansky-Pudlak syndrome because their platelets don’t clot normally. People can bleed freely and bruise easily. In a child initially diagnosed with albinism, frequent bleeding and bruising may be a sign that the patient may have Hermansky-Pudlak syndrome. Patients can also develop pulmonary fibrosis, in which the lungs become scarred and thickened over time. This leads to a reduction in available oxygen in the blood.

Some people with this disorder also experience intestinal complications. These can include frequent inflammation and irritation that causes discomfort. The kidneys and heart can be strained by Hermansky-Pudlak syndrome, and patients can develop skin irritation. Protecting the skin and eyes, as in other patients with albinism, is important when going outdoors or in harsh environments.

Patients may benefit from seeing different medical professionals for the management of Hermansky-Pudlak syndrome. This can include specialists such as gastroenterologists and pulmonologists. Diagnostic testing and evaluation can help medical professionals determine what shape a patient has, which can help develop a treatment plan. The condition can progress in unpredictable ways, which makes regular monitoring and checkups important to ensure changes in the course of the disease are caught early.

The genetic nature of this condition may be a concern for families with a history of it, or other forms of albinism. People concerned about this issue can discuss it with a genetic counselor. The test can help parents make appropriate family planning decisions and can help counsel adult children about their risk of being a carrier.

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