Hermansky-Pudlak syndrome, HPS1-related

What is Hermansky-Pudlak syndrome, HPS1-related?

Hermansky-Pudlak syndrome, HPS1-related, also known as Hermansky-Pudlak syndrome type 1 or HPS1, is a condition characterized by light coloring of the skin, hair, and eyes (hypopigmentation). Vision problems and excess bleeding are also common. The condition is caused by harmful genetic changes (variants) in the HPS1 gene.

Individuals with HPS1 have lighter colored skin, hair, and eyes than their family members. Affected individuals are at an increased risk for skin cancer. Over time, the skin can also become rough and thickened. Vision problems such as rapid, involuntary eye movements are often present at birth. Poor vision and sensitivity to light are also common. Generally, vision problems do not worsen after early childhood. HPS1 also causes excess bleeding and bruising. Patients with HPS1 are more prone to nosebleeds and heavy menstrual periods. Excess bleeding is also seen during tooth extraction, dental surgery, circumcision, and other surgeries. Life-threatening bleeding is rare.

Individuals with HPS1 may also develop lung disease (pulmonary fibrosis), with symptoms typically beginning in the 30s. Inflammation of the digestive tract (colitis) is also possible.

How common is Hermansky-Pudlak syndrome, HPS1-related?

The worldwide incidence of HPS1 is unknown, but it is considered rare. The condition is more common in the northwest Puerto Rican population, where 1 in 1,800 individuals are affected. It is also more common in certain Japanese, Swiss, and Indian populations.

How is Hermansky-Pudlak syndrome, HPS1-related, treated?

There is no cure for HPS1. Vision problems are treated with corrective lenses. Low vision aids such as magnifiers may also be helpful. Reduced sun exposure, sunscreen, and skin-covering clothing are recommended to reduce skin damage and skin cancer. Medication can be given before oral surgery to help reduce excess bleeding. Platelets or red cell blood transfusions can be given for excessive bleeding following major surgeries. Individuals with colitis may be treated with medication or surgery in severe cases. Some individuals with severe pulmonary fibrosis have been treated with lung transplantation.

What is the prognosis for an individual with Hermansky-Pudlak syndrome, HPS1-related?

With treatment, most individuals with HPS1 have a normal lifespan. If present, pulmonary fibrosis may be fatal within a decade unless an individual undergoes lung transplantation.