HPS1 Hermansky-Pudlak syndrome type 1 (HPS1) is a rare genetic disorder characterized by albinism, bleeding disorders, and other health problems. It is caused by mutations in the HPS1 gene, which is involved in the formation and function of specialized cell structures called melanosomes and platelet dense granules.

Individuals with HPS1 have decreased pigmentation in their skin, hair, and eyes, leading to albinism. They may also have vision problems, such as reduced visual acuity, nystagmus (involuntary eye movement), and sensitivity to light. In addition to the visual symptoms, HPS1 can cause bleeding disorders, including easy bruising, nosebleeds, and excessive bleeding during surgeries or dental procedures.

HPS1 can also affect other organs and systems in the body. Some individuals may experience lung fibrosis, which is scarring of the lung tissue that can cause breathing difficulties. Kidney problems, such as kidney failure or kidney stones, may also occur. Additionally, individuals with HPS1 have an increased risk of developing certain types of cancer, particularly a form of skin cancer called malignant melanoma.

There is currently no cure for HPS1, and treatment aims to manage the symptoms and complications associated with the disorder. This may include the use of sunscreen and protective clothing to reduce the risk of skin cancer, vision aids to improve visual acuity, and medications or transfusions to manage bleeding problems. Regular monitoring and screening for complications are also important in the management of HPS1.

Genetic counseling may be beneficial for individuals and families affected by HPS1 to understand the inheritance pattern and the risk of passing on the condition to future generations.