Hermansky–Pudlak syndrome: Difference between revisions

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+how dare you delete my information. its accurate argh
-{{Use dmy dates|date=July 2013}}
-{{Infobox disease
- | Name            = Hermansky–Pudlak syndrome
- | Image           =
- | Caption         =
- | DiseasesDB      = 29161
- | ICD10           = {{ICD10|E|70|3|e|70}}<BR>([[ILDS]] E70.360)
- | ICD9            =
- | ICDO            =
- | OMIM            = 203300
- | MedlinePlus     =
- | eMedicineSubj   = oph
- | eMedicineTopic  = 713
- | eMedicine_mult  = {{eMedicine2|derm|925}}
- | MeshID          = D022861
-}}
-'''Hermansky–Pudlak syndrome''' (HPS) is a rare [[autosomal]] [[recessive]]<ref>{{cite journal |pmid=9497254 |date=March 1998 |author=Oh, J; Ho, L; Ala-Mello, S; Amato, D; Armstrong, L; Bellucci, S; Carakushansky, G; Ellis, Jp; Fong, Ct; Green, Js; Heon, E; Legius, E; Levin, Av; Nieuwenhuis, Hk; Pinckers, A; Tamura, N; Whiteford, Ml; Yamasaki, H; Spritz, Ra |title=Mutation analysis of patients with Hermansky–Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity |volume=62 |issue=3 |pages=593–8 |pmc=1376951 |doi=10.1086/301757 |journal=American Journal of Human Genetics}}</ref> disorder which results in [[Albinism|oculocutaneous albinism]] (decreased [[pigmentation]]), bleeding problems due to a [[platelet]] abnormality ([[platelet storage pool defect]]), and storage of an abnormal fat-protein compound ([[lysosome|lysosomal]] accumulation of [[ceroid lipofuscin]]).
-It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in [[Puerto Rico|Puerto Ricans]], with a prevalence of 1 in 1800.<ref name="pmid16417222">{{cite journal  |vauthors=Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, etal |title=Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky–Pudlak syndrome type 1 and 3 mutations in Puerto Rico |journal=[[J. Invest. Dermatol.]] |volume=126 |issue=1 |pages=85–90 |date=January 2006 |pmid=16417222 |doi=10.1038/sj.jid.5700034 |pmc=3560388}}</ref> Many of the clinical research studies on the disease have been conducted in Puerto Rico.
-There are eight classic forms of the disorder, based on the [[gene]]tic [[mutation]] from which the disorder stems.<ref>{{OMIM|203300}}</ref>
-A ninth type has also been described.<ref name=Cullinane2011>{{cite journal | author = Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG| year = 2011 | title = A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9 | url = | journal = Am J Hum Genet | volume = 88 | issue = 6| pages = 778–787 | doi=10.1016/j.ajhg.2011.05.009|display-authors=etal}}</ref> This last type is due to a mutation in the gene [[Pallidin]] (PLDN).
-==Prognosis==
-The course of HPS has been mild in rare instances of the disorder,<ref>{{cite journal |pmid=8274781 |year=1993 |author=Schallreuter, Ku; Frenk, E; Wolfe, Ls; Witkop, Cj; Wood, Jm |title=Hermansky–Pudlak syndrome in a Swiss population |volume=187 |issue=4 |pages=248–56 |issn=1018-8665 |journal=Dermatology (Basel, Switzerland) |url=http://www.geneticalliance.org/ws_display.asp?filter=infosearch_results&info_keyword=Vitiligo |format=Free full text |doi=10.1159/000247258}}</ref> however, the general prognosis is still considered to be poor.
-The disease can cause dysfunctions of the [[lung]]s, [[intestine]], [[kidney]]s or [[heart]]. The major complication of most forms of the disorder is [[pulmonary fibrosis]], which typically exhibits in patients ages 40–50 years.<ref>{{cite journal |pmid=3921802 |date=May 1985 |author=Depinho, Ra; Kaplan, Kl |title=The Hermansky–Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations |volume=64 |issue=3 |pages=192–202 |issn=0025-7974 |journal=Medicine |doi=10.1097/00005792-198505000-00004}}</ref> This is a fatal complication seen in many forms of HPS, and is the usual cause of death from the disorder.<ref>{{cite journal |pmid=940919 |date=April 1976 |author=Davies, Bh; Tuddenham, Eg |title=Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome |volume=45 |issue=178 |pages=219–32 |issn=0033-5622 |journal=The Quarterly journal of medicine}}</ref> HPS patients who develop pulmonary fibrosis typically have type 1 or type 4.
-==Diagnosis==
-The diagnosis of HPS is established by clinical findings of hypopigmentation
-of the skin and hair, characteristic eye findings, and demonstration of absent
-dense bodies on whole mount electron microscopy of platelets.  Molecular
-genetic testing of the HPS1 gene is available on a clinical basis for
-individuals from northwestern Puerto Rico.  Molecular testing of the HPS3 gene
-is available on a clinical basis for individuals of central Puerto Rican or
-Ashkenazi Jewish heritage.  Sequence analysis is available on a clinical basis
-for mutations in HPS1 and HPS4.  Diagnosis of individuals with other types of
-HPS is available on a research basis only.<ref>{{cite web | url=http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hps | title=Hermansky–Pudlak Syndrome | accessdate=2008-11-24}}</ref>
-==Causes==
-HPS can be caused by [[mutation]]s in several [[gene]]s: [[HPS1]], [[HPS3]], [[HPS4]], [[HPS5]], [[HPS6]] and [[HPS7]].
-HPS type 2, which includes immunodeficiency in its phenotype, is caused by mutation in the [[AP3B1]] gene.
-HPS type 7 may result from a mutation in the gene coding for [[dysbindin]] protein.<ref name="pmid12923531">{{cite journal |author=Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT |title=Hermansky–Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) |journal=Nat. Genet. |volume=35 |issue=1 |pages=84–9 |year=2003 |pmid=12923531 |doi=10.1038/ng1229 |pmc=2860733}}</ref>
-Hermansky–Pudlak syndrome is thought to be inherited as an autosomal recessive genetic trait. The defective gene, called HSP {{dubious|HPS1 and HPS6 are located in 10q|date=January 2016}}, responsible for this disorder is located on the long arm of [[chromosome 10]] (10q2).  Some research suggests that an abnormality of lysosomal function may be responsible for the development of the disease. HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1 and BLOC1S3 are associated with Hermansky–Pudlak syndrome.
-In autosomal recessive disorders, the condition does not appear unless a person inherits two copies of the defective gene responsible for the disorder, one copy coming from each parent.  If an individual receives one normal gene and one gene for the disorder, 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 25 percent.  Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait).  The risk is the same for each pregnancy.<ref>{{cite web | url=http://www.cigna.com/healthinfo/nord946.html | title=CIGNA - Hermansky–Pudlak Syndrome | accessdate=2008-11-24}}</ref>
-==Symptoms==
-There are three main disorders caused by Hermansky–Pudlak syndrome, which result in these symptoms:
-*Albinism and eye problems: Individuals will have varying amounts of skin pigment (melanin).  Because of the albinism there are eye problems such as light sensitivity (photophobia), strabismus (crossed eyes), and nystagmus (involuntary eye movements).  Hermansky–Pudlak syndrome also impairs vision.
-*Bleeding disorders: Individuals with the syndrome have platelet dysfunction. Since platelets are necessary for blood clotting, individuals will bruise and bleed easily.
-*Cellular storage disorders: The syndrome causes a wax-like substance (ceroid) to accumulate in the body tissues and cause damage, especially in the lungs and kidneys.<ref>{{cite web | url=http://rarediseases.about.com/od/rarediseasesh/a/090404.htm | title=Hermansky–Pudlak Syndrome | accessdate=2008-11-24}}</ref>
-*Is associated with Granulomatous Colitis.
-It also associated with Pulmonary Fibrosis, a fatal lung disease.
-==Treatment==
-While there is no cure for HPS, treatment for chronic [[hemorrhage]]s associated with the disorder includes therapy with [[vitamin E]] and the antidiuretic [[dDAVP]].<ref>{{cite journal |pmid=2916560 |date=March 1989 |author=Wijermans, Pw; Van, Dorp, Db |title=Hermansky–Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin |volume=30 |issue=3 |pages=154–7 |issn=0361-8609 |journal=American journal of hematology |doi=10.1002/ajh.2830300307}}</ref>
-== Considerations for patients ==
-A preoperative pulmonology consultation is needed. The anesthesia team should
-be aware that patients may have postoperative pulmonary complications as part
-of the syndrome.
-Preoperative hematology consultation is advisable prior to elective ocular
-surgeries. Since patients with the syndrome have bleeding tendencies,
-intraoperative, perioperative, and postoperative hemorrhages should be
-prevented and treated. If platelet aggregation improves with desmopressin, it
-may be administered in the preoperative period. However, sometimes
-plasmapheresis is needed in the perioperative period.
-Ophthalmologists should try to avoid retrobulbar blocks in patients with the
-syndrome. Whenever possible, patients with HPS may benefit from general
-endotracheal anesthesia.  Phacoemulsification may help prevent intraoperative
-and postoperative bleeding in patients with the syndrome. Prolonged bleeding
-has been reported following strabismus surgery in patients with the syndrome.
-<ref>{{cite web | url=http://www.emedicine.com/oph/topic713.htm |
-title=Hermansky–Pudlak Syndrome | accessdate=2008-11-24}}</ref>
-==Clinical Research==
-HPS is one of the rare lung diseases currently being studied by The Rare Lung Diseases Consortium (RLDC).  The RLDC is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), of the National Center for Advancing Translational Sciences (NCATS).  The RLDC is dedicated to developing new diagnostics and therapeutics for patients with rare lung diseases, through collaboration between the NIH, patient organizations and clinical investigators.
-==Eponym==
-It is named for [[František Heřmanský]] (1916–1980) and [[Pavel Pudlák]] (1927–1993).<ref>{{WhoNamedIt|synd|2220}}</ref><ref>{{cite journal |pmid=13618373 |date=1 February 1959|author=Hermansky, F; Pudlak, P |title=Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. |volume=14 |issue=2 |pages=162–9 |issn=0006-4971 |journal=Blood |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=13618373 |format=Free full text }}</ref><ref>{{cite journal |pmid= |date=19 June 2013 |author=Khalid Al Aboud,  Daifullah Al Aboud |title= EPONYMS IN THE DERMATOLOGY LITERATURE LINKED TO CZECH REPUBLIC |volume=4 |issue=2 |pages=426–8 |issn= |journal=Our Dermatology |url=http://www.odermatol.com/issue-in-html/2013-3-2s-eponymscz/ |format=Free full text }}</ref>
-==See also==
-* [[Biogenesis of lysosome-related organelles complex 1]]
-* [[List of cutaneous conditions]]
-==References==
-{{Reflist|2}}
-==External links==
-* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hps  GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome]
-* [http://www.hpsnetwork.org Hermansky–Pudlak Syndrome Network]
-* [http://www.albinism.org/publications/HPS.html NOAH/albinism.org information about HPS]
-{{Amino acid metabolic pathology}}
-{{Myeloid hematologic disease}}
-{{Pigmentation disorders}}
-{{Inherited disorders of trafficking}}
-{{DEFAULTSORT:Hermansky-Pudlak Syndrome}}
-[[Category:Disturbances of human pigmentation]]
-[[Category:Syndromes]]
-[[Category:Amino acid metabolism disorders]]
-[[Category:Autosomal recessive disorders]]
-[[Category:Rare diseases]]
-[[Category:Coagulopathies]]
-[[Category:IUIS-PID table 3 immunodeficiencies]]