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Impaired epinephrine-induced platelet aggregation

MedGen UID:
870285
Concept ID:
C4024727
Finding
HPO: HP:0008148

Definition

Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Impaired epinephrine-induced platelet aggregation

Conditions with this feature

Glanzmann thrombasthenia
MedGen UID:
52736
Concept ID:
C0040015
Disease or Syndrome
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.
Platelet-type bleeding disorder 17
MedGen UID:
396078
Concept ID:
C1861194
Disease or Syndrome
Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).
Quebec platelet disorder
MedGen UID:
356528
Concept ID:
C1866423
Disease or Syndrome
Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009).
Platelet signal processing defect
MedGen UID:
357448
Concept ID:
C1868199
Disease or Syndrome
Platelet responsiveness to adrenaline, depressed
MedGen UID:
358151
Concept ID:
C1868200
Finding
Thrombocythemia 1
MedGen UID:
479301
Concept ID:
C3277671
Disease or Syndrome
Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). Genetic Heterogeneity of Thrombocythemia THCYT2 (601977) is caused by germline or somatic mutation in the THPO receptor gene (MPL; 159530) on chromosome 1p34, and THCYT3 (614521) is caused by germline or somatic mutation in the JAK2 gene (147796) on chromosome 9p. Somatic mutations in the TET2 (612839), ASXL1 (612990), SH2B3 (605093), and SF3B1 (605590) genes have also been found in cases of essential thrombocythemia. Somatic mutation in the CALR gene (109091) occurs in approximately 70% of essential thrombocythemia patients who lack JAK2 and MPL mutations (Klampfl et al., 2013; Nangalia et al., 2013).
Platelet-type bleeding disorder 18
MedGen UID:
863021
Concept ID:
C4014584
Disease or Syndrome
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MedGen UID:
1704278
Concept ID:
C5200934
Disease or Syndrome
MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 µm in diameter), thrombocytopenia (platelet count <150 x 109/L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop one or more additional extrahematologic manifestations of the disease over their lifetime, including sensorineural hearing loss, renal disease (manifesting initially as glomerular nephropathy), presenile cataracts, and/or elevation of liver enzymes.
Glanzmann thrombasthenia 2
MedGen UID:
1782592
Concept ID:
C5543273
Disease or Syndrome
Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800.
Bleeding disorder, platelet-type, 24
MedGen UID:
1785711
Concept ID:
C5543280
Disease or Syndrome
Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800.

Recent clinical studies

Etiology

Shi J, Tong R, Zhou M, Gao Y, Zhao Y, Chen Y, Liu W, Li G, Lu D, Meng G, Hu L, Yuan A, Lu X, Pu J
Eur Heart J 2022 Jun 21;43(24):2317-2334. doi: 10.1093/eurheartj/ehac109. PMID: 35267019Free PMC Article
Lin TM, Lin JS, Tseng JY, Wu SY, Chen TY
Platelets 2016;27(2):149-54. Epub 2015 Jun 17 doi: 10.3109/09537104.2015.1049137. PMID: 26083800
Kim SY, Kim S, Kim JM, Jho EH, Park S, Oh D, Yun-Choi HS
BMB Rep 2011 Feb;44(2):140-5. doi: 10.5483/BMBRep.2011.44.2.140. PMID: 21345315
Weiss HJ, Lages B
Blood 1988 Nov;72(5):1717-25. PMID: 2846091
Yamamoto K, Sekiguchi E, Takatani O
Thromb Haemost 1984 Dec 29;52(3):292-6. PMID: 6531753

Diagnosis

Ushikubi F, Okuma M, Ishibashi T, Narumiya S, Uchino H
Am J Hematol 1990 Feb;33(2):96-100. doi: 10.1002/ajh.2830330205. PMID: 2154092
Rao GH, White JG
Thromb Res 1989 Mar 1;53(5):427-34. doi: 10.1016/0049-3848(89)90197-7. PMID: 2544037
Kueh YK, Chan L, Lim BC, Suri R, Tan YO
Ann Acad Med Singap 1983 Jul;12(3):466-71. PMID: 6611104
Lages B, Weiss HJ
Thromb Haemost 1980 Jun 18;43(2):147-53. PMID: 7455974

Therapy

Ural AU, Yilmaz MI, Avcu F, Yalcin A
Int J Hematol 2002 Oct;76(3):279-83. doi: 10.1007/BF02982799. PMID: 12416740
Gillis S, Hyam E, Abrahamov A, Elstein D, Zimran A
Am J Hematol 1999 Jun;61(2):103-6. doi: 10.1002/(sici)1096-8652(199906)61:2<103::aid-ajh5>3.0.co;2-v. PMID: 10367788
Mohri H
Am J Hematol 1986 Aug;22(4):391-401. doi: 10.1002/ajh.2830220408. PMID: 3487975

Prognosis

Kueh YK, Chan L, Lim BC, Suri R, Tan YO
Ann Acad Med Singap 1983 Jul;12(3):466-71. PMID: 6611104

Clinical prediction guides

Fan C, Yang X, Wang WW, Wang J, Li W, Guo M, Huang S, Wang Z, Liu K
Arterioscler Thromb Vasc Biol 2020 Oct;40(10):2360-2375. Epub 2020 Aug 13 doi: 10.1161/ATVBAHA.120.314278. PMID: 32787516
Naik MU, Patel P, Derstine R, Turaga R, Chen X, Golla K, Neeves KB, Ichijo H, Naik UP
Blood 2017 Mar 2;129(9):1197-1209. Epub 2016 Dec 27 doi: 10.1182/blood-2016-07-729780. PMID: 28028021Free PMC Article
Ural AU, Yilmaz MI, Avcu F, Yalcin A
Int J Hematol 2002 Oct;76(3):279-83. doi: 10.1007/BF02982799. PMID: 12416740
Kueh YK, Chan L, Lim BC, Suri R, Tan YO
Ann Acad Med Singap 1983 Jul;12(3):466-71. PMID: 6611104
Lages B, Weiss HJ
Thromb Haemost 1980 Jun 18;43(2):147-53. PMID: 7455974

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