NORD gratefully acknowledges 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.
The first symptoms of Hermansky-Pudlak syndrome often 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, and aspirin makes the bleeding worse. Approximately one-sixth of HPS patients develop inflammation of the colon, with bleeding. Patients with type 1, type 2, or type 4 HPS (see below) develop a 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. This by itself is not known to cause symptoms.
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.
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.
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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.
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, Huizing M. Hermansky-Pudlak Syndrome. 2000 Jul 24 [Updated 2014 Dec 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1287/ Accessed April 20, 2015.
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