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Intermittent thrombocytopenia

MedGen UID:
374151
Concept ID:
C1839167
Finding
Synonym: Thrombocytopenia, intermittent
 
HPO: HP:0004854

Definition

Reduced platelet count that occurs sporadically, i.e., it comes and goes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Intermittent thrombocytopenia

Conditions with this feature

Lazy leukocyte syndrome
MedGen UID:
78795
Concept ID:
C0272174
Disease or Syndrome
Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections. Organisms usually include bacteria such as pneumococcus, Staphylococcus, and H. influenzae, but severe viral infections, including varicella, may also occur. Laboratory investigations may show neutropenia, neutrophilia, leukocytosis, or lymphopenia, although levels of immune cells may also be normal. Detailed studies often show impaired neutrophil chemotaxis associated with increased or abnormal F-actin levels, and impaired, normal, or even increased oxidative burst, depending on the stimulus. B- and T-cell abnormalities have also been observed. Some patients develop autoimmune manifestations, including chronic thrombocytopenia, anemia, and periodic fevers, associated with activation of the inflammasome. Early death may occur; however, hematopoietic stem cell transplantation may be curative (summary by Kuhns et al., 2016, Standing et al., 2017, and Pfajfer et al., 2018).
Pseudo von Willebrand disease
MedGen UID:
226914
Concept ID:
C1280798
Disease or Syndrome
Platelet-type von Willebrand disease (VWDP), also known as pseudo-von Willebrand disease, is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation (Murata et al., 1993). Miller (1996) gave a comprehensive review of the disorder.
Thrombocytopenia 1
MedGen UID:
326416
Concept ID:
C1839163
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
MedGen UID:
414066
Concept ID:
C2751630
Disease or Syndrome
G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn's disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).
TFRC-related combined immunodeficiency
MedGen UID:
1799556
Concept ID:
C5568133
Disease or Syndrome
A rare genetic combined T and B cell immunodeficiency characterised by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhoea, severe recurrent infections and failure to thrive. Laboratory studies reveal hypo or agammaglobulinaemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anaemia (resistant to iron supplementation) with low mean corpuscular volume.

Professional guidelines

PubMed

Ribba AS, Christophe O, Derlon A, Cherel G, Siguret V, Lavergne JM, Girma JP, Meyer D, Pietu G
Blood 1994 Feb 1;83(3):833-41. PMID: 8298143

Recent clinical studies

Etiology

Whangbo JS, Chou J, Al-Dhekri H, Harris M, Geha RS, Pai SY, Al-Herz W
J Allergy Clin Immunol Pract 2021 Feb;9(2):753-759.e2. Epub 2020 Oct 20 doi: 10.1016/j.jaip.2020.10.018. PMID: 33096268
McKinney C, Ellison M, Briones NJ, Baroffio A, Murphy J, Tran AD, Reisz JA, D'Alessandro A, Ambruso DR
Blood Adv 2020 Dec 8;4(23):5888-5901. doi: 10.1182/bloodadvances.2020002225. PMID: 33259599Free PMC Article
Notarangelo LD, Miao CH, Ochs HD
Curr Opin Hematol 2008 Jan;15(1):30-6. doi: 10.1097/MOH.0b013e3282f30448. PMID: 18043243
Jadavji T, Scheifele D, Halperin S; Canadian Paediatric Society/Health Cananda Immunization Monitoring Program
Pediatr Infect Dis J 2003 Feb;22(2):119-22. doi: 10.1097/01.inf.0000048961.08486.d1. PMID: 12586974

Diagnosis

Kim HJ, Hong YH
Korean J Intern Med 2022 Jul;37(4):879-880. Epub 2022 Mar 18 doi: 10.3904/kjim.2021.388. PMID: 35299292Free PMC Article
Medina SS, Siqueira LH, Colella MP, Yamaguti-Hayakawa GG, Duarte BKL, Dos Santos Vilela MM, Ozelo MC
BMC Pediatr 2017 Jun 22;17(1):151. doi: 10.1186/s12887-017-0897-6. PMID: 28641574Free PMC Article
Kiykim A, Baris S, Karakoc-Aydiner E, Ozen AO, Ogulur I, Bozkurt S, Ataizi CC, Boztug K, Barlan IB
J Pediatr Hematol Oncol 2015 Nov;37(8):616-22. doi: 10.1097/MPH.0000000000000441. PMID: 26479985
Banka S, Newman WG
Orphanet J Rare Dis 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84. PMID: 23758768Free PMC Article
Ochs HD, Notarangelo LD
Curr Opin Hematol 2005 Jul;12(4):284-91. doi: 10.1097/01.moh.0000168520.98990.19. PMID: 15928485

Therapy

McKinney C, Ellison M, Briones NJ, Baroffio A, Murphy J, Tran AD, Reisz JA, D'Alessandro A, Ambruso DR
Blood Adv 2020 Dec 8;4(23):5888-5901. doi: 10.1182/bloodadvances.2020002225. PMID: 33259599Free PMC Article
Glasser CL, Picoraro JA, Jain P, Kinberg S, Rustia E, Gross Margolis K, Anyane-Yeboa K, Iglesias AD, Green NS
J Pediatr Hematol Oncol 2016 Oct;38(7):e243-7. doi: 10.1097/MPH.0000000000000660. PMID: 27571123
Jadavji T, Scheifele D, Halperin S; Canadian Paediatric Society/Health Cananda Immunization Monitoring Program
Pediatr Infect Dis J 2003 Feb;22(2):119-22. doi: 10.1097/01.inf.0000048961.08486.d1. PMID: 12586974
Urban M, Opitz C, Bommer C, Enders H, Tinschert S, Witkowski R
Am J Med Genet 1998 Sep 23;79(3):155-60. doi: 10.1002/(sici)1096-8628(19980923)79:3<155::aid-ajmg1>3.0.co;2-m. PMID: 9788553
Clayton PT, Bowron A, Mills KA, Massoud A, Casteels M, Milla PJ
Gastroenterology 1993 Dec;105(6):1806-13. doi: 10.1016/0016-5085(93)91079-w. PMID: 8253356

Prognosis

Whangbo JS, Chou J, Al-Dhekri H, Harris M, Geha RS, Pai SY, Al-Herz W
J Allergy Clin Immunol Pract 2021 Feb;9(2):753-759.e2. Epub 2020 Oct 20 doi: 10.1016/j.jaip.2020.10.018. PMID: 33096268
Wada T, Itoh M, Maeba H, Toma T, Niida Y, Saikawa Y, Yachie A
Pediatr Blood Cancer 2014 Apr;61(4):746-8. Epub 2013 Sep 21 doi: 10.1002/pbc.24787. PMID: 24115682
Ochs HD, Notarangelo LD
Curr Opin Hematol 2005 Jul;12(4):284-91. doi: 10.1097/01.moh.0000168520.98990.19. PMID: 15928485
Jadavji T, Scheifele D, Halperin S; Canadian Paediatric Society/Health Cananda Immunization Monitoring Program
Pediatr Infect Dis J 2003 Feb;22(2):119-22. doi: 10.1097/01.inf.0000048961.08486.d1. PMID: 12586974

Clinical prediction guides

Ochs HD, Notarangelo LD
Curr Opin Hematol 2005 Jul;12(4):284-91. doi: 10.1097/01.moh.0000168520.98990.19. PMID: 15928485
Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD, Notarangelo LD
Blood 2002 Mar 15;99(6):2268-9. doi: 10.1182/blood.v99.6.2268. PMID: 11877312
Urban M, Opitz C, Bommer C, Enders H, Tinschert S, Witkowski R
Am J Med Genet 1998 Sep 23;79(3):155-60. doi: 10.1002/(sici)1096-8628(19980923)79:3<155::aid-ajmg1>3.0.co;2-m. PMID: 9788553
Nakagawa-Nishimura Y, Sugimoto M, Tsuji S, Kuwahara M, Nishio K, Takahashi Y, Fujimura Y, Murata M, Handa M, Ikeda Y
Int J Hematol 1995 Jun;61(4):189-96. doi: 10.1016/0925-5710(95)00367-2. PMID: 8547607
Ribba AS, Christophe O, Derlon A, Cherel G, Siguret V, Lavergne JM, Girma JP, Meyer D, Pietu G
Blood 1994 Feb 1;83(3):833-41. PMID: 8298143

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