Hermansky-Pudlak syndrome type 1 (HPS1) is a genetic condition that causes lighter skin, hair, and eyes, along with vision problems and a tendency to bleed easily.
People with HPS1 are at higher risk for skin cancer and often have poor vision and sensitivity to light from birth, though vision problems usually don’t get worse after early childhood. They may also experience frequent nosebleeds, heavy menstrual periods, and excess bleeding during surgeries. In their 30s, some individuals with HPS1 might develop lung disease, and others may experience inflammation of the digestive tract. There is no cure, but treatments include corrective lenses for vision, sunscreen and protective clothing for the skin, and medications to manage bleeding and other symptoms.
This condition is caused by pathogenic (disease-causing) variants in the HPS1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Hermansky-Pudlak Syndrome Network, Inc.
Written August 2024
