Hermansky-Pudlak Syndrome Awareness Day Date in the current year: April 6, 2026

Hermansky-Pudlak syndrome (HPS) is an extremely rare genetic disorder that can be caused by mutations in at least 11 different genes. These mutations cause three main disorders: albinism and associated visual impairment, a bleeding disorder, and a cellular storage disorder. The syndrome is named after the two Czechoslovakian physicians who discovered it in 1959: František Heřmanský and Pavel Pudlák.

HPS has been reported worldwide and is thought to affect approximately one in 500,000 people. However, it has a significantly higher prevalence in Puerto Rico, affecting approximately one in 1,800 people, presumably due to the founder effect. Consequently, many clinical studies of HPS have been conducted in Puerto Rico.

Individuals with HPS typically have tyrosinase-positive oculocutaneous albinism, in which the production of melanin is reduced but not completely absent. Some people have very light hair, pale skin, and blue eyes, while others have dark hair and eyes. In the latter group, the lack of melanin affects only their vision.

The most common eye problem associated with this type of albinism, and by extension HPS, is nystagmus, or involuntary eye movement. Some individuals may not know they have albinism because nystagmus is their only symptom. Other possible vision problems include strabismus (crossed eyes), photophobia (sensitivity to light), and decreased visual acuity, ranging from mild to legal blindness.

Individuals with HPS also have platelet dysfunction. Since platelets are essential for blood clotting, patients with HPS bruise and bleed easily (e.g., frequent nosebleeds, heavy menstrual bleeding, and longer bleeding times from cuts).

Some patients with HPS also have a lysosomal storage disorder, which is characterized by the accumulation of lipofuscin (an abnormal fat-protein compound) in various organs, such as the lungs, kidneys, intestines, and heart. This accumulation can cause serious, potentially life-threatening complications, such as inflammatory bowel disease or lung fibrosis. Lung fibrosis is the most common cause of death in individuals with HPS.

Like most genetic disorders, HPS is incurable. Treatment focuses on managing symptoms and preventing complications. It usually requires a multidisciplinary team consisting of an ophthalmologist, dermatologist, pulmonologist, gastroenterologist, nephrologist, hematologist, and dentist.

Hermansky-Pudlak Syndrome Awareness Day was launched in 2019 by the Hermansky-Pudlak Syndrome Network, a nonprofit organization that provides education and support to individuals with HPS and their families. The day is observed on April 6, the date on which the HPS Network was incorporated in 1995.

In previous years, the HPS Network and its partners have hosted fundraisers, movie nights, parties, conferences, and virtual events to raise awareness of Hermansky-Pudlak syndrome (HPS). You can support the cause by donating to the HPS Network and spreading the word on social media with the hashtag #HPSAwarenessDay.