Hermansky-Pudlak syndrome

Overview

Type of disease: Rare conditions

Hermansky-Pudlak syndrome (HPS) is a genetic condition that causes oculocutaneous albinism, bleeding problems, and lung abnormalities. The main feature of HPS, oculocutaneous albinism, causes abnormal light coloring (pigmentation) of the skin, hair, and eyes. Individuals with HPS tend to have a high risk of skin damage and skin cancer after prolonged sun exposure. Oculocutaneous albinism also affects the pigment in the eyes and may cause reduced vision and sensitivity to light (photophobia). These vision problems start in childhood and usually remain stable throughout life. Abnormal blood clotting (coagulation) leads to prolonged bleeding and frequent bruising. Some individuals with HPS have a lung condition called pulmonary fibrosis, which causes scar tissue to form in the lungs and can lead to breathing problems. Less common symptoms include inflammation of the large intestine and kidney failure. There are nine different types of HPS, with type 1 and type 4 being the most severe and types 3, 5, and 6 being the most mild.

HPS is caused by changes (mutations) in one of nine different genes. Mutations in the HPS1 gene or HPS3 gene are the cause of most cases of HPS. HPS is inherited in an autosomal recessive manner, which means a person must have a mutation in both copies of a gene in order to have the condition.

Features of HPS are usually present at birth, so it is usually suspected in a baby with light skin, hair, and eye color. In mild cases, the condition may not be diagnosed until later in life. Genetic testing is used to confirm the diagnosis. Although there is no cure for HPS, there are options to help prevent complications, such as avoiding exposure to sunlight by using sunscreen and sunglasses as well as avoiding medication that thins the blood, such as aspirin. If your child has been diagnosed with HPS, talk to their doctor about all treatment options. Support groups are available for more information and support.

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