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Idiopathic aplastic anemia

MedGen UID:
87595
•Concept ID:
C0348890
•
Disease or Syndrome
Synonym: Aplastic anemia, idiopathic
SNOMED CT: Idiopathic aplastic anemia (191256002)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0012197
Orphanet: ORPHA88

Definition

Aplastic anemia without a known cause. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIdiopathic aplastic anemia
Follow this link to review classifications for Idiopathic aplastic anemia in Orphanet.

Professional guidelines

PubMed

Clinical utility of relative telomere length analysis in pediatric bone marrow failure.
Amatya S, Bhatia P, Raina S, Sreedharanunni S, Singh M, Rahman E, Archana MV, Trehan A
Blood Cells Mol Dis 2024 Nov;109:102882. Epub 2024 Jul 31 doi: 10.1016/j.bcmd.2024.102882. PMID: 39096784
Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Idiopathic Aplastic Anemia in Children and Adults: Diagnosis, Treatments, and Management - A Review.
Alqahtany FS
Curr Pharm Biotechnol 2020;21(13):1282-1288. doi: 10.2174/1389201021666191210141426. PMID: 31820683

Recent clinical studies

Etiology

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T
Blood 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. PMID: 35605178Free PMC Article
Upfront Alternative Donor Transplant versus Immunosuppressive Therapy in Patients with Severe Aplastic Anemia Who Lack a Fully HLA-Matched Related Donor: Systematic Review and Meta-Analysis of Retrospective Studies, on Behalf of the Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation.
Alotaibi H, Aljurf M, de Latour R, Alfayez M, Bacigalupo A, Fakih RE, Schrezenmeier H, Ahmed SO, Gluckman E, Iqbal S, Höchsmann B, Halkes C, de la Fuente J, Alshehry N, Cesaro S, Passweg J, Dufour C, Risitano AM, DiPersio J, Motabi I
Transplant Cell Ther 2022 Feb;28(2):105.e1-105.e7. Epub 2021 Oct 11 doi: 10.1016/j.jtct.2021.10.006. PMID: 34649020
Single-Nucleotide Polymorphisms of FAS and FASL Genes and Risk of Idiopathic Aplastic Anemia.
Rehman S, Saba N, Naz M, Ahmed P, Munir S, Sajjad S, Tabassum S, Naseem L
Immunol Invest 2018 Jul;47(5):484-491. Epub 2018 Apr 3 doi: 10.1080/08820139.2018.1458106. PMID: 29611722
Immunosuppressive therapy in aplastic anemia.
Gupta V, Kumar A, Tilak V, Saini I, Bhatia B
Indian J Pediatr 2012 Dec;79(12):1587-91. Epub 2012 Jan 25 doi: 10.1007/s12098-012-0691-2. PMID: 22274992

Diagnosis

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T
Blood 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. PMID: 35605178Free PMC Article
Idiopathic Aplastic Anemia in Children and Adults: Diagnosis, Treatments, and Management - A Review.
Alqahtany FS
Curr Pharm Biotechnol 2020;21(13):1282-1288. doi: 10.2174/1389201021666191210141426. PMID: 31820683
Idiopathic aplastic anemia: diagnosis and classification.
Dolberg OJ, Levy Y
Autoimmun Rev 2014 Apr-May;13(4-5):569-73. Epub 2014 Jan 12 doi: 10.1016/j.autrev.2014.01.014. PMID: 24424170
Pregnancy in idiopathic aplastic anemia (report of 10 patients).
Pajor A, Kelemen E, Szakács Z, Lehoczky D
Eur J Obstet Gynecol Reprod Biol 1992 Jun 16;45(1):19-25. doi: 10.1016/0028-2243(92)90189-6. PMID: 1618358

Therapy

Hematologic complications of immune checkpoint inhibitors.
Kroll MH, Rojas-Hernandez C, Yee C
Blood 2022 Jun 23;139(25):3594-3604. doi: 10.1182/blood.2020009016. PMID: 34610113Free PMC Article
Idiopathic Aplastic Anemia in Children and Adults: Diagnosis, Treatments, and Management - A Review.
Alqahtany FS
Curr Pharm Biotechnol 2020;21(13):1282-1288. doi: 10.2174/1389201021666191210141426. PMID: 31820683
Immunosuppressive therapy for patients with Down syndrome and idiopathic aplastic anemia.
Suzuki K, Muramatsu H, Okuno Y, Narita A, Hama A, Takahashi Y, Yoshida M, Horikoshi Y, Watanabe K, Kudo K, Kojima S
Int J Hematol 2016 Jul;104(1):130-3. Epub 2016 Apr 23 doi: 10.1007/s12185-016-1997-z. PMID: 27107757
Idiopathic aplastic anemia: diagnosis and classification.
Dolberg OJ, Levy Y
Autoimmun Rev 2014 Apr-May;13(4-5):569-73. Epub 2014 Jan 12 doi: 10.1016/j.autrev.2014.01.014. PMID: 24424170
Immunosuppressive therapy in aplastic anemia.
Gupta V, Kumar A, Tilak V, Saini I, Bhatia B
Indian J Pediatr 2012 Dec;79(12):1587-91. Epub 2012 Jan 25 doi: 10.1007/s12098-012-0691-2. PMID: 22274992

Prognosis

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Immunosuppressive therapy in aplastic anemia.
Gupta V, Kumar A, Tilak V, Saini I, Bhatia B
Indian J Pediatr 2012 Dec;79(12):1587-91. Epub 2012 Jan 25 doi: 10.1007/s12098-012-0691-2. PMID: 22274992
Acquired aplastic anemia: correlation between etiology, pathophysiology, bone marrow histology and prognosis factors.
Găman A, Găman G, Bold A
Rom J Morphol Embryol 2009;50(4):669-74. PMID: 19942964
Pregnancy in idiopathic aplastic anemia (report of 10 patients).
Pajor A, Kelemen E, Szakács Z, Lehoczky D
Eur J Obstet Gynecol Reprod Biol 1992 Jun 16;45(1):19-25. doi: 10.1016/0028-2243(92)90189-6. PMID: 1618358
Drug-induced aplastic anemia: pathogenesis and clinical aspects.
Malkin D, Koren G, Saunders EF
Am J Pediatr Hematol Oncol 1990 Winter;12(4):402-10. doi: 10.1097/00043426-199024000-00004. PMID: 2285121

Clinical prediction guides

STAT1 overexpression triggers aplastic anemia: a pilot study unravelling novel pathogenetic insights in bone marrow failure.
Solimando AG, Desantis V, Palumbo C, Marasco C, Pappagallo F, Montagnani M, Ingravallo G, Cicco S, Di Paola R, Tabares P, Beilhack A, Dammacco F, Ria R, Vacca A
Clin Exp Med 2023 Oct;23(6):2687-2694. Epub 2023 Feb 24 doi: 10.1007/s10238-023-01017-0. PMID: 36826612Free PMC Article
Treg sensitivity to FasL and relative IL-2 deprivation drive idiopathic aplastic anemia immune dysfunction.
Lim SP, Costantini B, Mian SA, Perez Abellan P, Gandhi S, Martinez Llordella M, Lozano JJ, Antunes Dos Reis R, Povoleri GAM, Mourikis TP, Abarrategi A, Ariza-McNaughton L, Heck S, Irish JM, Lombardi G, Marsh JCW, Bonnet D, Kordasti S, Mufti GJ
Blood 2020 Aug 13;136(7):885-897. doi: 10.1182/blood.2019001347. PMID: 32294156Free PMC Article
Idiopathic aplastic anemia vs hypocellular myelodysplastic syndrome.
Durrani J, Maciejewski JP
Hematology Am Soc Hematol Educ Program 2019 Dec 6;2019(1):97-104. doi: 10.1182/hematology.2019000019. PMID: 31808900Free PMC Article
Deep phenotyping of Tregs identifies an immune signature for idiopathic aplastic anemia and predicts response to treatment.
Kordasti S, Costantini B, Seidl T, Perez Abellan P, Martinez Llordella M, McLornan D, Diggins KE, Kulasekararaj A, Benfatto C, Feng X, Smith A, Mian SA, Melchiotti R, de Rinaldis E, Ellis R, Petrov N, Povoleri GA, Chung SS, Thomas NS, Farzaneh F, Irish JM, Heck S, Young NS, Marsh JC, Mufti GJ
Blood 2016 Sep 1;128(9):1193-205. Epub 2016 Jun 8 doi: 10.1182/blood-2016-03-703702. PMID: 27281795Free PMC Article
Cytogenetic differentiation of Fanconi anemia, "idiopathic" aplastic anemia, and Fanconi anemia heterozygotes.
Cervenka J, Hirsch BA
Am J Med Genet 1983 Jun;15(2):211-23. doi: 10.1002/ajmg.1320150205. PMID: 6410915

Recent systematic reviews

Upfront Alternative Donor Transplant versus Immunosuppressive Therapy in Patients with Severe Aplastic Anemia Who Lack a Fully HLA-Matched Related Donor: Systematic Review and Meta-Analysis of Retrospective Studies, on Behalf of the Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation.
Alotaibi H, Aljurf M, de Latour R, Alfayez M, Bacigalupo A, Fakih RE, Schrezenmeier H, Ahmed SO, Gluckman E, Iqbal S, Höchsmann B, Halkes C, de la Fuente J, Alshehry N, Cesaro S, Passweg J, Dufour C, Risitano AM, DiPersio J, Motabi I
Transplant Cell Ther 2022 Feb;28(2):105.e1-105.e7. Epub 2021 Oct 11 doi: 10.1016/j.jtct.2021.10.006. PMID: 34649020

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