Albinism: Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare autosome recessive disorder that can lead to albinism, waste breakdown and platelet abnormalities. The condition affects only 1 in 500,000 people. It is striking that the condition is relatively much more common among Puerto Ricans. Here it occurs in 1 in 1,800 people. For this reason, much clinical research into the condition is also being conducted in Puerto Rico.

Hermansky-Pudlak syndrome


Rare condition associated with albinism

The Hermansky-Pudlak Syndrome (HPS) condition is a rare condition named after its Czech discoverers Frantisek Hermansky and Paulus Pudlak, both of whom died in the 1980s, who first described the symptoms in the late 1950s.
Because Hermansky-Pudlak syndrome is such a rare condition, few doctors in the Netherlands have experience with diagnosing it. However, because albinism is a very characteristic symptom, the chances are that the correct diagnosis will be made. The lung center of the St. Antonius Hospital in Nieuwegein is one of the few research centers in the Netherlands that does research into the genetic background of the condition. In addition, the Hematology department of the VU Medical Center also has some expertise in this area.

Symptoms Hermansky-Pudlak syndrome

The most important symptoms of Hermansky-Pudlak syndrome are the following:

Albinism

There are two types of albinism, one where only the eyes are affected and one where the pigmentation abnormality also affects the skin and hair. The latter type (oculocutane albinism) is associated with HPS. Due to the reduced pigmentation in the eyes, almost all people with albinism have a visual impairment. Due to the reduced pigment, HPS patients have to look out in the sun. They burn much faster and have an increased chance of developing skin cancer.

Bleeding disorders

HPS also has an effect on platelets. Because these blood platelets are necessary for the blood to clot, bleeding and bruising will occur more frequently and there will have to be a lot of dropping.

Lung fibrosis

This is a condition where connective tissue is formed in the lungs. This reduces the function of the lungs, making a lung transplant sometimes necessary. People with lung fibrosis are short of breath and have little energy.

Inflammation of organs

About 15% of people who suffer from HPS suffer from inflammation of various internal organs such as the liver and intestines. Problems with the heart and kidneys are much rarer.

Treatment of Hermansky-Pudlak syndrome

It is not possible to cure HPS, as is the case with all syndromes. Careful monitoring of patients is necessary, especially due to the risk of bleeding difficult to control. With HPS, therapy with Vitamin E or desmopressin is regularly chosen, a means that is normally used to prevent excessive secretion of water by the kidneys.
Patients with HPS regularly check up with a wide range of specialists. A pulmonologist monitors the condition of the lungs because of the risk of lung fibrosis. A hematologist monitors the frequency and severity of any bleeding. To prevent further deterioration of vision, it is important to consult an eye doctor every year so that eye problems can be overcome at an early stage. Due to the risk of developing skin cancer, regular check-ups by a dermatologist are also recommended. Anyone who wants to have a child and wants to find out more about the heredity of the syndrome can go to a geneticist.

Video: Hermansky-Pudlak Syndrome albinism (February 2020).

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