Overview and Facts about Hermansky-Pudlak Syndrome (HPS)
Hermansky–Pudlak Syndrome (HPS) is a rare, genetic disorder characterized by a condition called albinism, which causes abnormally light pigmentation (coloring) throughout the body. Prolonged or abnormal bleeding, visual impairment, and pulmonary fibrosis (scarring of the lungs) are other health conditions associated with HPS. An estimated 1 in 500,000 to 1,000,000 individuals are affected worldwide.
Signs and Symptoms of Hermansky-Pudlak Syndrome (HPS)
There are nine different types of HPS, and symptoms of HPS range from very mild with few symptoms to severe and disabling. Common signs of this disorder include:
- Albinism: abnormally light coloring of the skin, hair, and eyes. Some people may have oculocutaneous albinism (OCA), which is characterized by very light or white hair and fair skin, or ocular albinism (OA), which reduces the pigmentation of the iris (colored part of the eye) and the retina (the light-sensitive tissue at the back of the eye).
- Visual impairment, which is frequently severe enough to be legal blindness
- Light sensitivity (photophobia), crossed eyes (strabismus), and involuntary movement of the eyes (nystagmus)
- Problems with blood clotting, resulting in prolonged bleeding and a tendency to bruise easily
- Difficulty breathing due to pulmonary fibrosis, which causes scarring of the lungs. When the air sacs in the lungs become scarred and stiff, breathing becomes labored.
- Kidney failure (less common)
- Inflammation of the large intestine (less common)
Causes and Risk Factors of Hermansky-Pudlak Syndrome (HPS)
HPS is inherited as an autosomal recessive genetic disease, meaning someone has inherited two mutated genes, one from each parent. Mutations in one of 10 genes are responsible for this disorder.
Tests and Diagnosis of Hermansky-Pudlak Syndrome (HPS)
Diagnosis is based on clinical findings, such as albinism, and the study of blood platelets under an electron microscope. In HPS, the platelets lack dense bodies; a characteristic feature of HPS is not seeing dense bodies in platelets. Molecular genetic testing for mutations in one of the genes is available to confirm the diagnosis.
Treatment and Care for Hermansky-Pudlak Syndrome (HPS)
There is no cure for HPS, but it can be managed through medical care. Because multiple organs can be affected by this disorder, assembling a team of specialists ensures the proper management of symptoms.
For example, a hematologist (blood disease specialist) will help manage one’s bleeding risk, while a pulmonologist (lung disease specialist) will provide the necessary pulmonology and critical care for those diagnosed with pulmonary fibrosis; other specialists may include a gastroenterologist (digestive system specialist), dermatologist (skin disease specialist), and gynecologist (female reproductive system specialist).