$Unique_ID{BRK03586} $Pretitle{} $Title{Hermansky-Pudlak Syndrome} $Subject{Hermansky-Pudlak Syndrome Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells HPS Delta Storage Pool Disease Albinism Chediak-Higashi Syndrome} $Volume{} $Log{} Copyright (C) 1993 National Organization for Rare Disorders, Inc. 946: Hermansky-Pudlak Syndrome ** IMPORTANT ** It is possible that the main title of the article (Hermansky-Pudlak Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells HPS Delta Storage Pool Disease Information on the following diseases can be found in the Related Disorders section of this report: Albinism Chediak-Higashi Syndrome General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hermansky-Pudlak Syndrome is a rare, hereditary disorder that consists of three characteristics: Albinism (lack of skin pigment), red blood cells that lack dense bodies, and abnormal storage of a ceroid or fat-like material in various body systems. Symptoms Symptoms of Hermansky-Pudlak Syndrome include oculocutaneous albinism (lack of color in the skin, hair and eyes), abnormality of certain red blood cells (storage pool-deficient platelets), and deposits of ceroid ( a type of fat) in body tissues. The skin, hair, and eyes of a HPS patient may vary in color from very pale to almost normal coloring. Eyesight is almost always very poor with visual acuities of 20/200 or worse, and many people with HPS are legally blind. The blood storage abnormality may cause excessive bleeding, especially in women during menstruation. Bleeding may become life- threatening, especially after taking aspirin. The deposits of fat-like ceroid may occur in many of the body's tissues such as the lungs, colon, heart, and kidneys. These deposits may cause restrictive lung disease, inflammatory bowel disease (for more information on these types of disease see Crohns or Ulcerative Colitis in the Rare Disease Database), kidney failure, and heart disease. Often the first symptoms in a child with the HP syndrome may be easy bruising, bleeding gums, nose bleeds, and excessive bleeding after surgery or accidents. Causes The exact cause of Hermansky-Pudlak Syndrome is not known. Many researchers suggest that an abnormality of lysosomal function is responsible for the development of the disease. The disorder is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty- five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Hermansky-Pudlak Syndrome is a rare disorder that affects males and females in equal numbers. It is most prevalent in persons of Puerto Rican decent and occurs once in 2,000 persons of this nationality. However, it does occur in other heritages as well. The syndrome occurs most often in Puerto Ricans with ancestry from the northwest area of the country and can be traced, originally, to immigrants from Spain. It is the third most prevalent form of Albinism. Related Disorders Symptoms of the following 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 the absence at birth of 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 white. 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. (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 certain cancers. The disorder is hereditary. (For more information on this disorder, choose "Chediak-Higashi" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Hermansky-Pudlak Syndrome may consist of transfusions of normal blood platelets to patients with excessive bleeding, or treatment with the drug cyroprecipitate can halt blood loss. 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 very effective for this symptom in Hermansky-PudlaK Syndrome. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hermansky-Pudlak Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (203) 746-6518 Hermansky-Pudlak Syndrome Network 39 Riveria Court Malverne, NY 11565 (516) 599-2077 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. P. 1206. 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. ELEVATED URINARY DOLICHOL EXCRETION IN THE HERMANSKY-PUDLAK SYNDROME. INDICATOR OF LYSOSOMAL DYSFUNCTION., C.J. Witkop, et al.; Am J Med, March, 1987, (issue 82 (3)). Pp 463-670. HERMANSKY-PUDLAK SYNDROME: CASE REPORT AND CLINICOPATHOLOGIC REVIEW., J.P. Schachne, et al.; J Am Acad Dermatol, May, 1990, (issue 22 (5 pt 2)). Pp. 926-932.