Hermansky-Pudlak syndrome type 3 (HPS3) is a condition where people have lighter skin, hair, and eyes than others in their family (hypopigmentation).
Individuals with HPS3 might also have vision problems and bleed easily. While other types of this syndrome can cause breathing and colon issues, those problems are rare in HPS3. People with HPS3 often have lighter skin, hair, and eyes than their relatives, and they face a higher risk of skin cancer. Over time, their skin can become rough and thick. Vision problems, like quick and involuntary eye movements, are common from birth. Poor vision and sensitivity to light are also usual. These vision issues don’t usually get worse after early childhood. HPS3 also causes excess bleeding and easy bruising. People with this condition might get frequent nosebleeds and heavy periods. They bleed more during dental procedures, circumcision, and surgeries, although life-threatening bleeding is rare. Sadly, there’s no cure for HPS3. Doctors can help with vision problems by prescribing glasses and magnifiers. To protect their skin from damage and cancer, people with HPS3 are advised to stay out of the sun, use sunscreen, and wear protective clothing. Medications can be given before oral surgery to lessen bleeding, and in severe cases, blood transfusions might be necessary after major surgeries to prevent excessive bleeding.
HPS3 is caused by pathogenic (disease-causing) variants in the HPS3 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 235 chance to be a carrier.
Resources:
Hermansky-Pudlak Syndrome Network, Inc.
Revised October 2023
