Hermansky Pudlak syndrome
NORD is very grateful to William A. Gahl, MD, PhD, Clinical Director, National Human Genome Research Institute; Head, Section on Human Biochemical Genetics, Medical Genetics Branch; Head, Intramural Program, Office of Rare Diseases, National Institutes of Health, for assistance in the preparation of this report.
Synonyms of Hermansky Pudlak syndrome
- albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- delta storage pool disease
- No subdivisions found.
Hermansky-Pudlak syndrome is a rare, hereditary disorder that consists of three characteristics: lack of skin pigmentation (albinism), blood platelet dysfunction with prolonged bleeding, and visual impairment. Some patients have lung fibrosis, colitis, or an abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body.
Frequently the first symptoms of Hermansky-Pudlak syndrome include easy bruising, bleeding gums, nose bleeds, and excessive bleeding after surgery or accidents. The classic symptoms of Hermansky-Pudlak syndrome include the lack of color (pigmentation) in the skin, hair, and eyes (oculocutaneous albinism), and dysfunction of blood platelets leading to prolonged bleeding (storage pool-deficient platelets).
The skin, hair, and eyes of a person with Hermansky-Pudlak syndrome may vary in color from very pale to almost normal coloring. Eyesight is almost always impaired, commonly with visual acuities of 20/200 or worse (i.e., legally blind). The blood storage abnormality may cause excessive bleeding, especially in women during menstruation. Bleeding may become life-threatening, especially after taking aspirin. Approximately one-sixth of HPS patients develop a bleeding inflammation of the colon. Patients with type 1, type 2, or type 4 HPS (see below) develop a fatal lung disease called pulmonary fibrosis that can lead to death in their thirties, forties, or fifties.
The deposits of fatty-like ceroid lipofuscin may occur in many of the body's tissues such as the lungs, colon, heart, and kidneys.
Hermansky-Pudlak syndrome is inherited as an autosomal recessive genetic disease. Mutations in one of 9 genes (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, and PLDN) are responsible for this disorder. Research suggests that an abnormality of the formation or movement of lysosome-like vesicles may be responsible for the development of the disease. Humans inherit one gene from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits one defective gene from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but will not show symptoms. If both parents are carriers for a recessive disorder, the risk of transmitting the disease to a child is 25 percent; the risk that a child would be a carrier for the disease is 50 percent, and a child would inherit two normal genes 25 percent of the time. The risk is the same for each pregnancy.
Hermansky-Pudlak syndrome is a rare disorder that affects males and females in equal numbers. It is most prevalent in persons from northwest Puerto Rico, where Hermansky-Pudlack syndrome affects one of every 1,800 individuals. One in 21 individuals of northwest Puerto Rican descent are believed to be carriers of the Hermansky-Pudlack syndrome type 1 gene. However, Hermansky-Pudlack syndrome does occur in other populations as well. It is the third most prevalent form of albinism.
Symptoms of other disorders can be similar to those of Hermansky-Pudlak syndrome. Comparisons may be useful for a differential diagnosis:
Albinism is a group of rare inherited disorders characterized by reduced color (pigmentation) in the skin, hair, and eyes. Albinism is also associated with certain syndromes that produce defects in the eyes. In Albinism the skin and the eyes are generally pale. In some cases this may lead to abnormal sensitivity to light, abnormal eye movements, crossed eyes, or nearsightedness. Persons with albinism are at increased risk of developing skin cancer due to sun exposure. (For more information on this disorder, choose "Albinism" as your search term in the Rare Disease Database.)
Chediak-Higashi syndrome is a form of Albinism characterized by decreased skin pigmentation, eye problems, white blood cell abnormalities, and increased susceptibility to infections and a specific blood cancer. The disorder is hereditary. (For more information on this disorder, choose "Chediak-Higashi" as your search term in the Rare Disease Database.)
Treatment of Hermansky-Pudlak syndrome patients with excessive bleeding may consist of transfusions of normal blood platelets. Women with excessive menstrual bleeding (menorrhagia) can be treated with oral contraceptives. The drug desmopressin acetate (DDAVP) can also be administered to patients with excessive bleeding and has proved effective for some patients with this symptom. Individuals with Hermansky-Pudlak syndrome should avoid blood anticoagulants, such as aspirin.
Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
A study is being conducted at the National Institutes of Health/National Human Genome Research Institute to gather information on Hermansky-Pudlak syndrome. More studies are needed to determine the safety and effectiveness of treatments for Hermansky-Pudlak syndrome.
Hermansky Pudlak syndrome Resources
NORD Member Organizations:
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at email@example.com.)
The Metabolic Basis of Inherited Disease, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 2905, 2916, 2929-2930.
Hematology, 4th Ed,: William J. Williams, et al., Editors; McGraw-Hill, Inc., P. 1177.
Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338:1258-64, 1998.
Gahl, WA. Updated:July 8, 2010.Hermansky-Pudlak Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at http://www.genetests.org. Accessed on:February 1, 2012.
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM), Baltimore, MD. The Johns Hopkins University; http://www.ncbi.nlm.nih.gov/omim
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright ©1993, 1998, 1999, 2005, 2008, 2012
Report last updated: 2012/01/02 00:00:00 GMT+0
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.