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Abnormal platelet volume

MedGen UID:
868747
Concept ID:
C4023152
Anatomical Abnormality
HPO: HP:0011876

Definition

Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. [from HPO]

Conditions with this feature

Thrombocytopenia 2
MedGen UID:
349976
Concept ID:
C1861185
Disease or Syndrome
ANKRD26-related thrombocytopenia is characterized by lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Some individuals may have concomitant erythrocytosis and leukocytosis. The risk for myeloid malignancies (including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia) is increased in individuals with ANKRD26 pathogenic variants.
Thrombocytopenia 4
MedGen UID:
394329
Concept ID:
C2677608
Disease or Syndrome
Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.

Professional guidelines

PubMed

O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Vannuccini S, Luisi S, Tosti C, Sorbi F, Petraglia F
Fertil Steril 2018 Mar;109(3):398-405. doi: 10.1016/j.fertnstert.2018.01.013. PMID: 29566852
Lindheimer MD, Katz AI
Annu Rev Med 1989;40:233-50. doi: 10.1146/annurev.me.40.020189.001313. PMID: 2658750

Recent clinical studies

Etiology

Moore EE, Moore HB, Kornblith LZ, Neal MD, Hoffman M, Mutch NJ, Schöchl H, Hunt BJ, Sauaia A
Nat Rev Dis Primers 2021 Apr 29;7(1):30. doi: 10.1038/s41572-021-00264-3. PMID: 33927200Free PMC Article
Hamrick SEG, Sallmon H, Rose AT, Porras D, Shelton EL, Reese J, Hansmann G
Pediatrics 2020 Nov;146(5) doi: 10.1542/peds.2020-1209. PMID: 33093140Free PMC Article
Raval JS, Griggs JR, Fleg A
Am Fam Physician 2020 Jul 1;102(1):30-38. PMID: 32603068
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301

Diagnosis

Lebduska E, Beshear D, Spataro BM
Med Clin North Am 2023 Mar;107(2):235-246. Epub 2022 Dec 26 doi: 10.1016/j.mcna.2022.10.014. PMID: 36759094
Jacobi J
Am J Health Syst Pharm 2022 Mar 7;79(6):424-436. doi: 10.1093/ajhp/zxab393. PMID: 34651652
Moore EE, Moore HB, Kornblith LZ, Neal MD, Hoffman M, Mutch NJ, Schöchl H, Hunt BJ, Sauaia A
Nat Rev Dis Primers 2021 Apr 29;7(1):30. doi: 10.1038/s41572-021-00264-3. PMID: 33927200Free PMC Article
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301

Therapy

Kapadia SR, Krishnaswamy A, Whisenant B, Potluri S, Iyer V, Aragon J, Gideon P, Strote J, Leonardi R, Agarwal H, Larrain G, Sanchez C, Panaich SS, Harvey J, Vahl T, Menon V, Wolski K, Wang Q, Leon MB
Circulation 2024 Mar 5;149(10):734-743. Epub 2023 Oct 24 doi: 10.1161/CIRCULATIONAHA.123.067312. PMID: 37874908
Jacobi J
Am J Health Syst Pharm 2022 Mar 7;79(6):424-436. doi: 10.1093/ajhp/zxab393. PMID: 34651652
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Raval JS, Griggs JR, Fleg A
Am Fam Physician 2020 Jul 1;102(1):30-38. PMID: 32603068
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390

Prognosis

Zhang L, Liu J, Qin X, Liu W
Clin Chim Acta 2022 Nov 1;536:29-38. Epub 2022 Sep 16 doi: 10.1016/j.cca.2022.09.015. PMID: 36122665
Geçkalan Soysal D, Özdemir R
Cardiol Young 2022 Feb;32(2):203-207. Epub 2021 May 10 doi: 10.1017/S1047951121001773. PMID: 33966672
Raval JS, Griggs JR, Fleg A
Am Fam Physician 2020 Jul 1;102(1):30-38. PMID: 32603068
He M, Li M, Zhang W
Andrologia 2020 Feb;52(1):e13477. Epub 2019 Nov 12 doi: 10.1111/and.13477. PMID: 31713875
de Gaetano G, Santimone I, Gianfagna F, Iacoviello L, Cerletti C
Handb Exp Pharmacol 2012;(210):395-434. doi: 10.1007/978-3-642-29423-5_16. PMID: 22918740

Clinical prediction guides

Kapadia SR, Krishnaswamy A, Whisenant B, Potluri S, Iyer V, Aragon J, Gideon P, Strote J, Leonardi R, Agarwal H, Larrain G, Sanchez C, Panaich SS, Harvey J, Vahl T, Menon V, Wolski K, Wang Q, Leon MB
Circulation 2024 Mar 5;149(10):734-743. Epub 2023 Oct 24 doi: 10.1161/CIRCULATIONAHA.123.067312. PMID: 37874908
Jacobi J
Am J Health Syst Pharm 2022 Mar 7;79(6):424-436. doi: 10.1093/ajhp/zxab393. PMID: 34651652
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Raval JS, Griggs JR, Fleg A
Am Fam Physician 2020 Jul 1;102(1):30-38. PMID: 32603068
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390

Recent systematic reviews

Xu C, Song Z, Hu LT, Tong YH, Hu JY, Shen H
BMC Gastroenterol 2024 Jul 3;24(1):214. doi: 10.1186/s12876-024-03305-9. PMID: 38961334Free PMC Article
Cao YT, Zhang KY, Sun J, Lou Y, Lv TS, Yang X, Zhang WH, Yu JY, Wu QB, Zhou XQ
Front Immunol 2022;13:1089469. Epub 2022 Dec 22 doi: 10.3389/fimmu.2022.1089469. PMID: 36618418Free PMC Article
Walle M, Gelaw Y, Getu F, Asrie F, Getaneh Z
PLoS One 2022;17(9):e0274398. Epub 2022 Sep 14 doi: 10.1371/journal.pone.0274398. PMID: 36103491Free PMC Article
Rasyid N, Harjanggi M, Atmoko W, Birowo P
Int J Impot Res 2022 Dec;34(8):746-752. Epub 2022 Jan 29 doi: 10.1038/s41443-021-00523-7. PMID: 35091698
Ding R, Zhang Q, Duan Y, Wang D, Sun Q, Shan R
Eur J Pediatr 2021 Mar;180(3):699-708. Epub 2020 Sep 19 doi: 10.1007/s00431-020-03802-5. PMID: 32949292

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