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Madisons Foundation - Moms And Dads In Search Of Needed Support

Hermansky-Pudlak Syndrome
Tuesday, 30 March 2004
Monday, 29 November 2004


Hermansky-Pudlak syndrome is a rare, inherited genetic disorder that is comprised of three conditions: albinism (loss of skin and eye pigment), excessive bleeding, and inflammation of multiple organs from the accumulation of toxic metabolites.


The frequency of Hermansky-Pudlak syndrome is not known. In some regions of Puerto Rico, researchers have shown that 1 out of 1,800 persons is affected. Males and females are equally affected and there is no racial preference.

Signs and Symptoms

In general, the presentation is highly variable in children with Hermansky-Pudlak syndrome. They may exhibit the following:

  • Visual deficits with blurred vision, near or far sightedness, and wandering eye movements.
  • Eye color may change from blue to green or brown
  • White to brown hair color
  • Easy bruising, nose bleeds, gum bleeding
  • Prolonged bleeding after surgery
  • Abnormal uterine bleeding and heavy menses in females.
  • Abdominal pain, diarrhea, gastrointestinal bleeding, and a high risk for developing inflammatory bowel disease (an autoimmune reaction against the intestines).
  • Frequent sunburns, freckles, and light skin.
  • Progressive scarring of the lungs, leading to shortness of breath.
  • Signs of heart and kidney failure.

Possible Causes

The cause of Hermansky-Pudlak syndrome has been linked to mutations in a gene known as HPS. Defects in this gene results in the harmful accumulation of cellular waste products in the lung, bone marrow, and other bodily organs. Hermansky-Pudlak syndrome is inherited in an autosomal recessive fashion; meaning two copies of the defective HPS gene must be present for a child to be affected. There may be several different genes that produce similar appearing syndromes.


Making the diagnosis of Hermansky-Pudlak syndrome depends upon linking the characteristic visual deficits, albinism, and bleeding disorder with special blood tests. Your doctor may order a special hair bulb test which can help confirm the diagnosis if the test is positive. Bleeding times can be performed to show abnormally long time to stop bleeding, while analysis of platelets under the microscope may reveal abnormal clumping ability. Lung function tests can help identify scarred lungs while a high resolution computerized tomography (CT) scan can help lung specialists assess the severity of damage.


The management of children with Hermansky-Pudlak syndrome requires close monitoring of their visual, bleeding, and lung conditions. Early consultation with the ophthalmologist (eye), pulmonologist (lung), dermatologist (skin), hematologist (blood), and geneticist (genetics) doctors are critical prior to any corrective eye surgery. Diets rich in vitamin D and calcium will help slow the development of associated osteoporosis. Exposure to sunlight without sunblock should also be minimized due to the increased risk of skin cancer. Monitoring and treatment for inflammatory bowel disease is important due to the need for different treatment for this disorder.


Children with Hermansky-Pudlak syndrome are usually legally blind and have skin involvement ranging from freckles to skin cancer. Most live into adulthood, and many have normal lifespans, but this can vary depending on the severity of the disease.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Hermansky-Pudlak Syndrome Network
Useful and thorough general information about disease and resources

National organization for children with pigmentation disorders

International Albinism Center
For the parent interested in learning more about albinism.

Platelet Disorder Support Association
Great website for parents to learn about platelet disorders.

AllRefer Health
Good pictures of albinism.

Google Search for Hermansky-Pudlak Syndrome

References and Sources

Izquierdo N, Emedicine article: Hermansky, F. and Pudlak, P. (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood.14: 162-169.