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Hermansky-Pudlak syndrome(HPS)

MedGen UID:
36313
Concept ID:
C0079504
Congenital Abnormality; Disease or Syndrome
Synonyms: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells; Delta storage pool disease
SNOMED CT: Hermansky-Pudlak syndrome (9311003); Albinism with hemorrhagic diathesis (9311003); Alpha storage pool disease (9311003); Hermansky Pudlak syndrome (9311003)
 
OMIM®: 203300

Disease characteristics

Excerpted from the GeneReview: Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects are associated primarily with HPS-2. [from GeneReviews]
Authors:
William A Gahl  |  Marjan Huizing   view full author information

Additional description

From GHR
Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding.Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems.Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure.There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.  http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome

Recent clinical studies

Etiology

Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA
J Clin Invest 2015 Aug 3;125(8):3178-92. Epub 2015 Jun 29 doi: 10.1172/JCI79792. [Epub ahead of print] PMID: 26121745Free PMC Article
Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B
Am J Respir Crit Care Med 2014 Dec 15;190(12):1395-401. doi: 10.1164/rccm.201407-1287OC. PMID: 25347450Free PMC Article
Bachmann C, Abele H, Wallwiener D, Kagan KO
Arch Gynecol Obstet 2014 Jun;289(6):1193-5. Epub 2013 Dec 13 doi: 10.1007/s00404-013-3110-7. [Epub ahead of print] PMID: 24337786
Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Inukai T, Mori H, Ohmori K, Akiyama K
BMC Psychiatry 2013 Oct 30;13:276. doi: 10.1186/1471-244X-13-276. [Epub ahead of print] PMID: 24168225Free PMC Article
Ryder PV, Vistein R, Gokhale A, Seaman MN, Puthenveedu MA, Faundez V
Mol Biol Cell 2013 Jul;24(14):2269-84. Epub 2013 May 15 doi: 10.1091/mbc.E13-02-0088. [Epub ahead of print] PMID: 23676666Free PMC Article

Diagnosis

Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA
J Clin Invest 2015 Aug 3;125(8):3178-92. Epub 2015 Jun 29 doi: 10.1172/JCI79792. [Epub ahead of print] PMID: 26121745Free PMC Article
Sharda A, Kim SH, Jasuja R, Gopal S, Flaumenhaft R, Furie BC, Furie B
Blood 2015 Mar 5;125(10):1633-42. Epub 2015 Jan 15 doi: 10.1182/blood-2014-08-597419. [Epub ahead of print] PMID: 25593336Free PMC Article
Minkin P, Bertetti R, Lindsey S, Bovino B
J Oral Maxillofac Surg 2015 Feb;73(2):219-23. Epub 2014 Sep 16 doi: 10.1016/j.joms.2014.08.037. [Epub ahead of print] PMID: 25579005
Sánchez-Guiu I, Torregrosa JM, Velasco F, Antón AI, Lozano ML, Vicente V, Rivera J
Hamostaseologie 2014;34(4):301-9. Epub 2014 Aug 13 doi: 10.5482/HAMO-14-06-0024. [Epub ahead of print] PMID: 25117010
Ryder PV, Vistein R, Gokhale A, Seaman MN, Puthenveedu MA, Faundez V
Mol Biol Cell 2013 Jul;24(14):2269-84. Epub 2013 May 15 doi: 10.1091/mbc.E13-02-0088. [Epub ahead of print] PMID: 23676666Free PMC Article

Therapy

Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA
J Clin Invest 2015 Aug 3;125(8):3178-92. Epub 2015 Jun 29 doi: 10.1172/JCI79792. [Epub ahead of print] PMID: 26121745Free PMC Article
Harada T, Ishimatsu Y, Nakashima S, Miura S, Tomonaga M, Kakugawa T, Hara S, Sakamoto N, Yoshii C, Mukae H, Kawabata Y, Kohno S
Intern Med 2014;53(23):2705-9. Epub 2014 Dec 1 PMID: 25447654
Kanazu M, Arai T, Sugimoto C, Kitaichi M, Akira M, Abe Y, Hozumi Y, Suzuki T, Inoue Y
Intern Med 2014;53(22):2629-34. Epub 2014 Nov 15 PMID: 25400188
Bachmann C, Abele H, Wallwiener D, Kagan KO
Arch Gynecol Obstet 2014 Jun;289(6):1193-5. Epub 2013 Dec 13 doi: 10.1007/s00404-013-3110-7. [Epub ahead of print] PMID: 24337786
Harris-Glocker M, Thornburg LL, Pressman EK
J Reprod Med 2013 May-Jun;58(5-6):267-70. PMID: 23763015

Prognosis

Bin Saeedan M, Faheem Mohammed S, Mohammed TL
Curr Probl Diagn Radiol 2015 Jul-Aug;44(4):383-5. Epub 2015 Jan 30 doi: 10.1067/j.cpradiol.2015.01.003. [Epub ahead of print] PMID: 25728501
Harada T, Ishimatsu Y, Nakashima S, Miura S, Tomonaga M, Kakugawa T, Hara S, Sakamoto N, Yoshii C, Mukae H, Kawabata Y, Kohno S
Intern Med 2014;53(23):2705-9. Epub 2014 Dec 1 PMID: 25447654
Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B
Am J Respir Crit Care Med 2014 Dec 15;190(12):1395-401. doi: 10.1164/rccm.201407-1287OC. PMID: 25347450Free PMC Article
Furuhashi K, Enomoto N, Fujisawa T, Hashimoto D, Inui N, Nakamura Y, Suda T
Intern Med 2014;53(5):449-53. PMID: 24583434
Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, Bharadwaj V, de la Fuente J, Chakravorty S, Mumford AD
BMC Med Genet 2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42. [Epub ahead of print] PMID: 23557002Free PMC Article

Clinical prediction guides

Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B
Am J Respir Crit Care Med 2014 Dec 15;190(12):1395-401. doi: 10.1164/rccm.201407-1287OC. PMID: 25347450Free PMC Article
Salvaggio HL, Graeber KE, Clarke LE, Schlosser BJ, Orlow SJ, Clarke JT
JAMA Dermatol 2014 Oct;150(10):1083-7. doi: 10.1001/jamadermatol.2014.147. PMID: 24989352
Furuhashi K, Enomoto N, Fujisawa T, Hashimoto D, Inui N, Nakamura Y, Suda T
Intern Med 2014;53(5):449-53. PMID: 24583434
Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Inukai T, Mori H, Ohmori K, Akiyama K
BMC Psychiatry 2013 Oct 30;13:276. doi: 10.1186/1471-244X-13-276. [Epub ahead of print] PMID: 24168225Free PMC Article
Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, Bharadwaj V, de la Fuente J, Chakravorty S, Mumford AD
BMC Med Genet 2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42. [Epub ahead of print] PMID: 23557002Free PMC Article

Recent systematic reviews

Sánchez-Guiu I, Torregrosa JM, Velasco F, Antón AI, Lozano ML, Vicente V, Rivera J
Hamostaseologie 2014;34(4):301-9. Epub 2014 Aug 13 doi: 10.5482/HAMO-14-06-0024. [Epub ahead of print] PMID: 25117010
White JG
Crit Rev Oncol Hematol 1986;4(4):337-77. PMID: 3513985

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