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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

The similarity of class II HLA genotypes defines patterns of autoreactivity in idiopathic bone marrow failure disorders.
Pagliuca S, Gurnari C, Awada H, Kishtagari A, Kongkiatkamon S, Terkawi L, Zawit M, Guan Y, LaFramboise T, Jha BK, Patel BJ, Hamilton BK, Majhail NS, Lundgren S, Mustjoki S, Saunthararajah Y, Visconte V, Chan TA, Yang CY, Lenz TL, Maciejewski JP
Blood 2021 Dec 30;138(26):2781-2798. doi: 10.1182/blood.2021012900. PMID: 34748628Free 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
Treatment of chemotherapy-induced or idiopathic bone marrow aplasia with granulocyte colony-stimulating factor (G-CSF).
Robak T, Krykowski E, Warzocha K
Arch Immunol Ther Exp (Warsz) 1994;42(5-6):433-8. PMID: 8572903

Recent clinical studies

Etiology

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
Effect of Stem Cell Source and Dose on Allogeneic Hematopoietic Stem Cell Transplantation in Adult Patients with Idiopathic Aplastic Anemia: Data from the Korean Aplastic Anemia Trials.
Kim H, Lee KH, Sohn SK, Kim I, Kim SH, Park Y, Choi JH, Kwak JY, Kim MK, Bae SH, Shin HJ, Won JH, Lee WS, Choi Y; on behalf of the Korean Society of Blood and Marrow Transplantation
Acta Haematol 2020;143(3):232-243. Epub 2019 Aug 7 doi: 10.1159/000501496. PMID: 31390612
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
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
Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita.
Dokal I
Curr Opin Hematol 1996 Nov;3(6):453-60. doi: 10.1097/00062752-199603060-00009. PMID: 9372117

Diagnosis

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
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
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

Effect of Stem Cell Source and Dose on Allogeneic Hematopoietic Stem Cell Transplantation in Adult Patients with Idiopathic Aplastic Anemia: Data from the Korean Aplastic Anemia Trials.
Kim H, Lee KH, Sohn SK, Kim I, Kim SH, Park Y, Choi JH, Kwak JY, Kim MK, Bae SH, Shin HJ, Won JH, Lee WS, Choi Y; on behalf of the Korean Society of Blood and Marrow Transplantation
Acta Haematol 2020;143(3):232-243. Epub 2019 Aug 7 doi: 10.1159/000501496. PMID: 31390612
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
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

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
Aplastic anemia following viral hepatitis: report of two fatal cases and literature review.
Hagler L, Pastore RA, Bergin JJ, Wrensch MR
Medicine (Baltimore) 1975 Mar;54(2):139-64. PMID: 1117835

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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