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Abnormal platelet count

MedGen UID:
488925
Concept ID:
C0580317
Finding
Synonyms: Platelet count abnormal; Platelet count outside reference range
SNOMED CT: Platelet count abnormal (165558001); Platelet count outside reference range (165558001)
 
HPO: HP:0011873

Definition

Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. [from HPO]

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.
Hereditary spherocytosis type 5
MedGen UID:
436371
Concept ID:
C2675192
Disease or Syndrome
EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic nonimmune hemolytic anemia that is usually of mild-to-moderate severity. EPB42-HS can present with jaundice as early as the first 24 hours of life or can present later in childhood with anemia resulting from a hemolytic crisis or aplastic crisis (usually associated with a viral infection). In addition to the hematologic manifestations, serious complications include splenomegaly, which can become evident in early childhood, and cholelithiasis, which usually becomes evident in the second or third decade of life. Typical laboratory findings in EPB42-HS include anemia (decreased hemoglobin [Hgb] level) and reticulocytosis (increased percentage of reticulocytes), with high mean corpuscular Hgb concentration, presence of spherocytes in the peripheral blood smear, significantly decreased or absent haptoglobin, mildly increased osmotic fragility in osmotic fragility assay, increased Omin (osmolality at which 50% of red blood cells hemolyze), and decreased maximal elongation index (EImax) in osmotic gradient ektacytometry.
Bleeding disorder, platelet-type, 13, susceptibility to
MedGen UID:
481244
Concept ID:
C3279614
Finding
Susceptibility to platelet-type bleeding disorder-13 is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010).
Platelet-type bleeding disorder 11
MedGen UID:
481750
Concept ID:
C3280120
Disease or Syndrome
Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).

Professional guidelines

PubMed

Wang ZL, Jin R, Hao M, Xie YD, Liu ZC, Wang XX, Feng B
Medicine (Baltimore) 2022 Nov 18;101(46):e31395. doi: 10.1097/MD.0000000000031395. PMID: 36401422Free PMC Article
Ling Q, Chen J, Zhou H, Zhong J, Chen Y, Ye Q, Zhuo Y, Min N, Shang B
Arch Virol 2015 Apr;160(4):1105-12. Epub 2015 Feb 18 doi: 10.1007/s00705-015-2364-8. PMID: 25687192
Levi M
Int J Lab Hematol 2014 Jun;36(3):228-36. doi: 10.1111/ijlh.12221. PMID: 24750668

Recent clinical studies

Etiology

Wang ZL, Jin R, Hao M, Xie YD, Liu ZC, Wang XX, Feng B
Medicine (Baltimore) 2022 Nov 18;101(46):e31395. doi: 10.1097/MD.0000000000031395. PMID: 36401422Free PMC Article
Galloway J, Barrett K, Irving P, Khavandi K, Nijher M, Nicholson R, de Lusignan S, Buch MH
RMD Open 2020 Sep;6(3) doi: 10.1136/rmdopen-2020-001392. PMID: 32994362Free PMC Article
Kakkar AK, Bauersachs R, Falanga A, Wong J, Kayani G, Kahney A, Hughes R, Levine M
Oncologist 2020 Jul;25(7):e1091-e1097. Epub 2020 May 8 doi: 10.1634/theoncologist.2019-0676. PMID: 32384216Free PMC Article
Maestre A, Trujillo-Santos J, Riera-Mestre A, Jiménez D, Di Micco P, Bascuñana J, Vela JR, Peris L, Malfante PC, Monreal M; RIETE Investigators
Ann Am Thorac Soc 2015 Aug;12(8):1122-9. doi: 10.1513/AnnalsATS.201504-202OC. PMID: 26114586
Msaouel P, Lam AP, Gundabolu K, Chrysofakis G, Yu Y, Mantzaris I, Friedman E, Verma A
Haematologica 2014 May;99(5):930-6. Epub 2014 Feb 7 doi: 10.3324/haematol.2013.101949. PMID: 24510340Free PMC Article

Diagnosis

Wang ZL, Jin R, Hao M, Xie YD, Liu ZC, Wang XX, Feng B
Medicine (Baltimore) 2022 Nov 18;101(46):e31395. doi: 10.1097/MD.0000000000031395. PMID: 36401422Free PMC Article
Kakkar AK, Bauersachs R, Falanga A, Wong J, Kayani G, Kahney A, Hughes R, Levine M
Oncologist 2020 Jul;25(7):e1091-e1097. Epub 2020 May 8 doi: 10.1634/theoncologist.2019-0676. PMID: 32384216Free PMC Article
Maestre A, Trujillo-Santos J, Riera-Mestre A, Jiménez D, Di Micco P, Bascuñana J, Vela JR, Peris L, Malfante PC, Monreal M; RIETE Investigators
Ann Am Thorac Soc 2015 Aug;12(8):1122-9. doi: 10.1513/AnnalsATS.201504-202OC. PMID: 26114586
Lynch HT, Weisenburger DD, Quinn-Laquer B, Snyder CL, Lynch JF, Lipkin SM, Sanger WG
Cancer Genet Cytogenet 2002 Aug;137(1):8-14. doi: 10.1016/s0165-4608(02)00537-x. PMID: 12377407
Welkon CJ, Long SS, Fisher MC, Alburger PD
Pediatr Infect Dis 1986 Nov-Dec;5(6):669-76. doi: 10.1097/00006454-198611000-00014. PMID: 3540888

Therapy

Kakkar AK, Bauersachs R, Falanga A, Wong J, Kayani G, Kahney A, Hughes R, Levine M
Oncologist 2020 Jul;25(7):e1091-e1097. Epub 2020 May 8 doi: 10.1634/theoncologist.2019-0676. PMID: 32384216Free PMC Article
Tilemann L, Mohr SK, Preusch M, Chorianopoulos E, Giannitsis E, Katus HA, Müller OJ
J Interv Cardiol 2018 Jun;31(3):277-283. Epub 2017 Dec 6 doi: 10.1111/joic.12474. PMID: 29214676
Yamazaki H, Kobayashi N, Taketsuna M, Tajima K, Suzuki N, Murakami M
Curr Med Res Opin 2017 Dec;33(12):2241-2249. Epub 2017 Jul 20 doi: 10.1080/03007995.2017.1354832. PMID: 28699846
Maestre A, Trujillo-Santos J, Riera-Mestre A, Jiménez D, Di Micco P, Bascuñana J, Vela JR, Peris L, Malfante PC, Monreal M; RIETE Investigators
Ann Am Thorac Soc 2015 Aug;12(8):1122-9. doi: 10.1513/AnnalsATS.201504-202OC. PMID: 26114586
Welkon CJ, Long SS, Fisher MC, Alburger PD
Pediatr Infect Dis 1986 Nov-Dec;5(6):669-76. doi: 10.1097/00006454-198611000-00014. PMID: 3540888

Prognosis

Wang ZL, Jin R, Hao M, Xie YD, Liu ZC, Wang XX, Feng B
Medicine (Baltimore) 2022 Nov 18;101(46):e31395. doi: 10.1097/MD.0000000000031395. PMID: 36401422Free PMC Article
Kakkar AK, Bauersachs R, Falanga A, Wong J, Kayani G, Kahney A, Hughes R, Levine M
Oncologist 2020 Jul;25(7):e1091-e1097. Epub 2020 May 8 doi: 10.1634/theoncologist.2019-0676. PMID: 32384216Free PMC Article
Maestre A, Trujillo-Santos J, Riera-Mestre A, Jiménez D, Di Micco P, Bascuñana J, Vela JR, Peris L, Malfante PC, Monreal M; RIETE Investigators
Ann Am Thorac Soc 2015 Aug;12(8):1122-9. doi: 10.1513/AnnalsATS.201504-202OC. PMID: 26114586
Sadarangani M, Scheifele DW, Halperin SA, Vaudry W, Le Saux N, Tsang R, Bettinger JA; investigators of the Canadian Immunization Monitoring Program, ACTive (IMPACT)
Clin Infect Dis 2015 Apr 15;60(8):e27-35. Epub 2015 Jan 20 doi: 10.1093/cid/civ028. PMID: 25605282
Msaouel P, Lam AP, Gundabolu K, Chrysofakis G, Yu Y, Mantzaris I, Friedman E, Verma A
Haematologica 2014 May;99(5):930-6. Epub 2014 Feb 7 doi: 10.3324/haematol.2013.101949. PMID: 24510340Free PMC Article

Clinical prediction guides

Zhang Y, Zhu X, Qiao X, Sun L, Tian Y, Yang Y, Zhao Y, Liu C
Int J Med Sci 2020;17(17):2819-2825. Epub 2020 Oct 8 doi: 10.7150/ijms.48971. PMID: 33162809Free PMC Article
Galloway J, Barrett K, Irving P, Khavandi K, Nijher M, Nicholson R, de Lusignan S, Buch MH
RMD Open 2020 Sep;6(3) doi: 10.1136/rmdopen-2020-001392. PMID: 32994362Free PMC Article
Tilemann L, Mohr SK, Preusch M, Chorianopoulos E, Giannitsis E, Katus HA, Müller OJ
J Interv Cardiol 2018 Jun;31(3):277-283. Epub 2017 Dec 6 doi: 10.1111/joic.12474. PMID: 29214676
Maestre A, Trujillo-Santos J, Riera-Mestre A, Jiménez D, Di Micco P, Bascuñana J, Vela JR, Peris L, Malfante PC, Monreal M; RIETE Investigators
Ann Am Thorac Soc 2015 Aug;12(8):1122-9. doi: 10.1513/AnnalsATS.201504-202OC. PMID: 26114586
Msaouel P, Lam AP, Gundabolu K, Chrysofakis G, Yu Y, Mantzaris I, Friedman E, Verma A
Haematologica 2014 May;99(5):930-6. Epub 2014 Feb 7 doi: 10.3324/haematol.2013.101949. PMID: 24510340Free PMC Article

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