Hermansky-Pudlak Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Hermansky-Pudlak Syndrome?
A geneticist (a doctor who treats inherited conditions) often leads care for Hermansky-Pudlak syndrome. A hematologist (a blood doctor) helps with bleeding problems, and an eye doctor helps with vision. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Hermansky-Pudlak syndrome?
Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder. It causes oculocutaneous albinism, which means unusually light coloring of the skin, hair, and eyes. It also causes blood clotting problems that lead to easy bruising and long bleeding.
There are several types, and each one is linked to a different gene. Types 1 and 4 are the most severe. Types 3, 5, and 6 have the mildest symptoms. HPS is most common in people from Puerto Rico.
Symptoms
Symptoms differ from person to person and from type to type. They can include:
- Skin, hair, and eyes that range from very pale to almost normal coloring.
- Skin that is more easily damaged by the sun, with a higher risk of skin cancer.
- Reduced vision, quick involuntary eye movements called nystagmus, and sensitivity to light.
- Easy bruising, bleeding gums, nosebleeds, and heavy bleeding after surgery or accidents.
- Heavy bleeding during periods.
- Pulmonary fibrosis, a lung disease that causes scar tissue in the lungs and breathing problems. It can start in the early thirties and worsen quickly.
- Inflammatory bowel disease, which causes pain and bloody diarrhea, in about one-sixth of people.
- Kidney failure, which is less common.
- Immune problems that can lead to repeated infections in people with type 2 or type 10.
Causes and who gets it
HPS is caused by changes in genes. These genes help build tiny structures inside cells that make skin color and help platelets, the blood cells that form clots, work well. HPS is inherited in an autosomal recessive pattern. This means a person gets a changed gene from each parent. Parents who carry one changed gene typically do not show signs of the condition. HPS affects males and females in equal numbers.
It is most common in northwest Puerto Rico, where about 1 in 1,800 people have it.
How doctors diagnose it
Doctors first look for light hair and skin color, eye findings, and a history of bleeding. A special test can look at the platelets under an electron microscope. Genetic testing, which looks for changes in the HPS genes, confirms the diagnosis and the type.
Treatment
Most treatment is aimed at symptoms and support. Protecting the skin from the sun is critical. Genetic counseling is recommended for affected people and their families.
- Bleeding: Doctors may use medicines that help blood clot, such as desmopressin, which helps some patients. For serious bleeding, platelet transfusions can be used.
- Platelet transfusions are used sparingly, because many transfusions can cause antibodies that lead to graft rejection, which is rejection of a transplant.
- People with HPS should avoid medicines that can raise bleeding risk, such as aspirin, ibuprofen, heparin, and coumadin.
- A hematologist can make a bleeding plan to share with other doctors, schools, and workplaces. Medical identification jewelry also helps.
- Eyes: Low-vision eye doctors can prescribe special lenses, prescription sunglasses, and other aids.
- Lungs: Care aims to protect lung function. This means avoiding cigarette smoke, treating lung infections early, and staying up to date on vaccines.
- People with type 1, 2, or 4 who develop pulmonary fibrosis may eventually need a lung transplant.
- Bowel disease: Medicines such as corticosteroids can help, and surgery can be used in hard cases.
When to see a doctor
Bleeding in HPS may become life-threatening. Call 911 or go to the emergency room if bleeding will not stop, if you have severe trouble breathing, or if you have chest pain or fainting.
See a doctor if you or your child has easy bruising, bleeding gums, or nosebleeds along with very light skin, hair, and eyes.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can review your history, order basic tests, and help you set up visits with a geneticist, a hematologist, and an eye doctor. They can also help with follow-up between specialist visits.
Common questions
Is Hermansky-Pudlak syndrome inherited?
Yes, it is passed down in families. Both parents must pass on a changed gene for a child to have it. If both parents are carriers, the risk of passing the disease to a child is 25 percent in each pregnancy.
Does Hermansky-Pudlak syndrome always cause lung disease?
No, only some types are linked to lung disease. Those are types 1, 2, and 4.
Why do people with Hermansky-Pudlak syndrome bruise and bleed easily?
People with HPS bruise and bleed easily because their platelets do not stick together well. Platelets are the blood cells that help form clots.
Should people with Hermansky-Pudlak syndrome avoid aspirin?
Yes, people with HPS should avoid certain medicines that increase bleeding, including aspirin and ibuprofen. A hematologist can make a plan for which medicines to avoid.
Sources
- MedlinePlus Genetics - Hermansky-Pudlak syndrome
- National Organization for Rare Disorders (NORD) - Hermansky Pudlak Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
