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Platelet prostacyclin receptor defect

MedGen UID:: 337912
•Concept ID:: C1849774
•: Disease or Syndrome

Synonym:	VIENNA-HIETZING DEFECT

Monarch Initiative:	MONDO:0009884
OMIM®:	262875

Clinical features

From HPO

Intermittent claudication

MedGen UID:: 7115
•Concept ID:: C0021775
•: Disease or Syndrome

Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.

See: Feature record | Search on this feature

Abnormality of metabolism/homeostasis

MedGen UID:: 867398
•Concept ID:: C4021768
•: Finding

See: Feature record | Search on this feature

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Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
Abnormality of the cardiovascular system
- Intermittent claudication

Professional guidelines

PubMed

Pregnancy-specific expression of protease-activated receptor 1: a therapeutic target for prevention and treatment of preeclampsia?

Walsh SW, Strauss JF 3rd
Am J Obstet Gynecol 2022 Feb;226(2S):S945-S953. doi: 10.1016/j.ajog.2021.11.1367. PMID: 35177224 Free PMC Article

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Recent clinical studies

Etiology

Pregnancy-specific expression of protease-activated receptor 1: a therapeutic target for prevention and treatment of preeclampsia?

Walsh SW, Strauss JF 3rd
Am J Obstet Gynecol 2022 Feb;226(2S):S945-S953. doi: 10.1016/j.ajog.2021.11.1367. PMID: 35177224 Free PMC Article

Novel anti-thrombotic mechanisms mediated by Mas receptor as result of balanced activities between the kallikrein/kinin and the renin-angiotensin systems.

Fang C, Schmaier AH
Pharmacol Res 2020 Oct;160:105096. Epub 2020 Jul 24 doi: 10.1016/j.phrs.2020.105096. PMID: 32712319 Free PMC Article

Platelet-Specific Deletion of Cyclooxygenase-1 Ameliorates Dextran Sulfate Sodium-Induced Colitis in Mice.

Sacco A, Bruno A, Contursi A, Dovizio M, Tacconelli S, Ricciotti E, Guillem-Llobat P, Salvatore T, Di Francesco L, Fullone R, Ballerini P, Arena V, Alberti S, Liu G, Gong Y, Sgambato A, Patrono C, FitzGerald GA, Yu Y, Patrignani P
J Pharmacol Exp Ther 2019 Sep;370(3):416-426. Epub 2019 Jun 27 doi: 10.1124/jpet.119.259382. PMID: 31248980

New Developments in Platelet Cyclic Nucleotide Signalling: Therapeutic Implications.

Procter NE, Hurst NL, Nooney VB, Imam H, De Caterina R, Chirkov YY, Horowitz JD
Cardiovasc Drugs Ther 2016 Oct;30(5):505-513. doi: 10.1007/s10557-016-6671-4. PMID: 27358171

Regulators of platelet cAMP levels: clinical and therapeutic implications.

Noé L, Peeters K, Izzi B, Van Geet C, Freson K
Curr Med Chem 2010;17(26):2897-905. doi: 10.2174/092986710792065018. PMID: 20858171

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Diagnosis

Thrombospondin-1 promotes hemostasis through modulation of cAMP signaling in blood platelets.

Aburima A, Berger M, Spurgeon BEJ, Webb BA, Wraith KS, Febbraio M, Poole AW, Naseem KM
Blood 2021 Feb 4;137(5):678-689. doi: 10.1182/blood.2020005382. PMID: 33538796

Signal transduction system in epinephrine stimulated platelets; comparison between epinephrine sensitive and insensitive platelets.

Nakamura T, Ariyoshi H, Kambayashi J, Ikeda M, Shinoki N, Kawasaki T, Monden M
Thromb Res 1997 Jan 15;85(2):83-93. doi: 10.1016/s0049-3848(96)00225-3. PMID: 9058482

Defects in the prostaglandin-system--heredity, prevalence and vascular risk analysis.

Virgolini I, O'Grady J, Peskar BA, Sinzinger H
Prostaglandins Leukot Essent Fatty Acids 1990 Jul;40(3):227-37. doi: 10.1016/0952-3278(90)90103-r. PMID: 2119511

Successful therapy of the prostaglandin defect "Wien-Hietzing" (lack of platelet high-affinity binding sites for prostaglandin I2).

Steurer G, Kaliman J, Gludovacz D, Sinzinger H
Prostaglandins 1990 Jun;39(6):693-703. doi: 10.1016/0090-6980(90)90029-u. PMID: 2115189

Modification of human platelet response to sodium arachidonate by membrane modulation.

Rao GH, Reddy KR, White JG
Prostaglandins Med 1981 Jan;6(1):75-90. doi: 10.1016/s0161-4630(81)80011-0. PMID: 6261286

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Therapy

Pregnancy-specific expression of protease-activated receptor 1: a therapeutic target for prevention and treatment of preeclampsia?

Walsh SW, Strauss JF 3rd
Am J Obstet Gynecol 2022 Feb;226(2S):S945-S953. doi: 10.1016/j.ajog.2021.11.1367. PMID: 35177224 Free PMC Article

High throughput mutagenesis for identification of residues regulating human prostacyclin (hIP) receptor expression and function.

Bill A, Rosethorne EM, Kent TC, Fawcett L, Burchell L, van Diepen MT, Marelli A, Batalov S, Miraglia L, Orth AP, Renaud NA, Charlton SJ, Gosling M, Gaither LA, Groot-Kormelink PJ
PLoS One 2014;9(6):e97973. Epub 2014 Jun 2 doi: 10.1371/journal.pone.0097973. PMID: 24886841 Free PMC Article

Regulators of platelet cAMP levels: clinical and therapeutic implications.

Noé L, Peeters K, Izzi B, Van Geet C, Freson K
Curr Med Chem 2010;17(26):2897-905. doi: 10.2174/092986710792065018. PMID: 20858171

Prostacyclin and prostaglandin E1: molecular mechanisms and therapeutic utility.

Kerins DM, Murray R, FitzGerald GA
Prog Hemost Thromb 1991;10:307-37. PMID: 1848945

Prostacyclin in hypertension.

Frölich JC
J Hypertens Suppl 1990 Sep;8(4):S73-8. PMID: 2258788

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Prognosis

Acceleration of cardiovascular disease by a dysfunctional prostacyclin receptor mutation: potential implications for cyclooxygenase-2 inhibition.

Arehart E, Stitham J, Asselbergs FW, Douville K, MacKenzie T, Fetalvero KM, Gleim S, Kasza Z, Rao Y, Martel L, Segel S, Robb J, Kaplan A, Simons M, Powell RJ, Moore JH, Rimm EB, Martin KA, Hwa J
Circ Res 2008 Apr 25;102(8):986-93. Epub 2008 Mar 6 doi: 10.1161/CIRCRESAHA.107.165936. PMID: 18323528 Free PMC Article

Successful therapy of the prostaglandin defect "Wien-Hietzing" (lack of platelet high-affinity binding sites for prostaglandin I2).

Steurer G, Kaliman J, Gludovacz D, Sinzinger H
Prostaglandins 1990 Jun;39(6):693-703. doi: 10.1016/0090-6980(90)90029-u. PMID: 2115189

Reduced platelet thromboxane formation in uremia. Evidence for a functional cyclooxygenase defect.

Remuzzi G, Benigni A, Dodesini P, Schieppati A, Livio M, De Gaetano G, Day SS, Smith WL, Pinca E, Patrignani P, Patrono C
J Clin Invest 1983 Mar;71(3):762-8. doi: 10.1172/jci110824. PMID: 6298281 Free PMC Article

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