Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems.
Prognosis
The course of HPS has been mild in rare instances of the disorder, however, the general prognosis is still considered to be poor.
The disease can cause dysfunctions of the lungs, intestine, kidneys or heart. The major complication of most forms of the disorder is pulmonary fibrosis, which typically exhibits in patients ages 40 – 50 years old. This is a fatal complication seen in many forms of HPS, and is the usual cause of death from the disorder.
The disorder is more common in Puerto Rico, where many of the clinical research studies on the disease have been conducted.
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.
Causes
HPS can be caused by mutations in several genes: 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.
Hermansky–Pudlak Syndrome is thought to be inherited as an autosomal recessive genetic trait. The defective gene, called HSP, 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.
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 - Hermansky–Pudlak syndrome causes a wax-like substance (ceroid) to accumulate in the body tissues and cause damage, especially in the lungs and kidneys.
Treatment
While there is no cure for HPS, treatment for chronic hemorrhages associated with the disorder includes therapy with vitamin E and the antidiuretic dDAVP.
A preoperative pneumologist 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.
Eponym
It is named for Frantisek Hermansky and P. Pudlak.
References
- ^ 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 (March 1998). "Mutation analysis of patients with Hermansky–Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity". American journal of human genetics 62 (3): 593–8. doi: 10.1086/301757 . PMID 9497254.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 203300
- ^ Schallreuter, Ku; Frenk, E; Wolfe, Ls; Witkop, Cj; Wood, Jm (1993). "Hermansky–Pudlak syndrome in a Swiss population" (Free full text). Dermatology (Basel, Switzerland) 187 (4): 248–56. ISSN 1018-8665. PMID 8274781 . http://www.geneticalliance.org/ws_display.asp?filter=infosearch_results&info_keyword=Vitiligo .
- ^ Depinho, Ra; Kaplan, Kl (May 1985). "The Hermansky–Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations". Medicine 64 (3): 192–202. doi: 10.1097/00005792-198505000-00004 . ISSN 0025-7974. PMID 3921802.
- ^ Davies, Bh; Tuddenham, Eg (April 1976). "Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome". The Quarterly journal of medicine 45 (178): 219–32. ISSN 0033-5622. PMID 940919.
Hot Tub & Swimming Pool Accessories: Lights, Filters & Cleaners
... La Spas » life » Proline » Swimways; Best Sellers » Toypedo Bandits » Waterwand ... Shop for swimming pool accessories such as filters, cleaners, floating lights and more – enjoy your ...
Proline Pool Filters
PROLINE (Singapore) Filters -PPL 844. Bringing clean water to your home. Installed at Point of Entry to provide the whole house with clean and clear water.
Swimming Pool & Spa Construction & Maintenance: Pool filter, pool ...
You could try looking for Pool Supply Distributors on line . I'm will to bet Hayward made the filter and slapped Proline which is a Namco name on it as a contract deal.
Proline 16 Inch Pool Filter, Tan Austin Frye Boot, Daytona Pedestrian ...
philadelphia inquirer the harold f ryder travel agent:: sopranos mp3 free download:: robin thicks colon cleanse:: proline 16 inch pool filter:: -
Proline Filters & Pumps - PriceGrabber.com
Compare prices on Proline Filters & Pumps and save. Read consumer reviews, store ratings and find best deals on Proline Filters & Pumps ... Pool Filter Cartridges. 75% Off. Quality Spa & ...
Proline Insert Fitting
CSI 37451 - Proline Insert Fitting - Proline Insert Fitting ... Test Kits Chemical Dispensers Cleaners & Vacuums Pool Liners Pool Filters/ Pumps Pool Filter ...
5 Stage WaterWorld ®* Proline Reverse Osmosis RO Pure Water System ...
Refrigerator Water Filters | Pool and Spa Filters | Boat & RV ... filters and membranes are compatible fit for use in Waterworld Proline ® brand water filter ...
Robin Thicks Colon Cleanse, Running Amplified Speakers To Portable G ...
Running Amplified Speakers To Portable G, Proline 16 Inch Pool Filter, Fish Pond Vacumns - Hartford Welding Rod Law Suit Attorneys; Mediplus Disability Insurance
Sta-rite pool filters
STA-RITE (U.S.A) Filters -System 3 Sand Filter The System 3 sand filter is designed with 16 precision molded laterals and advanced hub design. This results in long cycle times ...
Intex Filter Pool Pump aqua leisure pool filter
Aqua Leisure Pool Filter Pump pool filter part. Information at ... proline de instructions hayward system; hayward system pool filter pump; hayward cartridge troubleshooting intex type