What Is Hermansky-Pudlak Syndrome?

Hermansky-Pudlak syndrome is a form of albinism first recognized in the 1950s by the two Czech researchers for whom it is named. There are several variants, all of which involve decreased pigmentation, bleeding disorders, and lung problems. Treatment focuses on management of the symptoms to keep the patient comfortable, and may involve consultants from several medical fields. Additional complications can occur in patients with Hermansky-Pudlak syndrome, including problems with the heart, kidneys, or intestines.

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

Bleeding disorders develop in patients with Hermansky-Pudlak syndrome because their platelets do not clot normally. People may bleed freely and bruise easily. In a child initially diagnosed with albinism, frequent bleeding and bruising can be a sign that the patient may have Hermansky-Pudlak syndrome. Patients can also develop pulmonary fibrosis, where 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 which cause discomfort. The kidneys and heart can be strained by Hermansky-Pudlak syndrome, and patients may develop skin irritation. Protecting the skin and eyes, as in other patients with albinism, is important when going outdoors or into harsh environments.

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

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