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Pernicious anemia

MedGen UID:
1531
•Concept ID:
C0002892
•
Disease or Syndrome
Synonyms: Addison Anemia; Addison's Anemia; Addisons Anemia; Anemia, Addison; Anemia, Addison's; Anemia, Addisons; Anemia, Pernicious; Pernicious Anemia
SNOMED CT: Pernicious anemia (84027009); Addisonian pernicious anemia (84027009); Megaloblastic anemia due to impaired absorption of cobalamin (84027009); Addison's anemia (84027009); Biermer's anemia (84027009)
 
Monarch Initiative: MONDO:0008228
OMIM®: 170900
Orphanet: ORPHA120

Definition

Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. [from NCI]

Clinical features

From HPO
Megaloblastic anemia
MedGen UID:
1527
•Concept ID:
C0002888
•
Disease or Syndrome
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
See: Feature record | Search on this feature
Malabsorption of Vitamin B12
MedGen UID:
852749
•Concept ID:
C0750292
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Diagnostic criteria and endoscopic and histological findings of autoimmune gastritis in Japan.
Kamada T, Watanabe H, Furuta T, Terao S, Maruyama Y, Kawachi H, Kushima R, Chiba T, Haruma K
J Gastroenterol 2023 Mar;58(3):185-195. Epub 2023 Mar 1 doi: 10.1007/s00535-022-01954-9. PMID: 36855000Free PMC Article
Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach.
Bjørklund G, Pivin M, Hangan T, Yurkovskaya O, Pivina L
Autoimmun Rev 2022 Aug;21(8):103135. Epub 2022 Jun 9 doi: 10.1016/j.autrev.2022.103135. PMID: 35690244
AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article

Recent clinical studies

Etiology

Atopic dermatitis and risk of autoimmune conditions: Population-based cohort study.
de Lusignan S, Alexander H, Broderick C, Dennis J, McGovern A, Feeney C, Flohr C
J Allergy Clin Immunol 2022 Sep;150(3):709-713. Epub 2022 Apr 22 doi: 10.1016/j.jaci.2022.03.030. PMID: 35469843
Vitamin B12 deficiency.
Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Clinical manifestations of chronic atrophic gastritis.
Rodriguez-Castro KI, Franceschi M, Noto A, Miraglia C, Nouvenne A, Leandro G, Meschi T, De' Angelis GL, Di Mario F
Acta Biomed 2018 Dec 17;89(8-S):88-92. doi: 10.23750/abm.v89i8-S.7921. PMID: 30561424Free PMC Article
Anemia in thyroid diseases.
Szczepanek-Parulska E, Hernik A, Ruchała M
Pol Arch Intern Med 2017 May 31;127(5):352-360. Epub 2017 Mar 28 doi: 10.20452/pamw.3985. PMID: 28400547

Diagnosis

Pernicious Anemia: The Hematological Presentation of a Multifaceted Disorder Caused by Cobalamin Deficiency.
Esposito G, Dottori L, Pivetta G, Ligato I, Dilaghi E, Lahner E
Nutrients 2022 Apr 17;14(8) doi: 10.3390/nu14081672. PMID: 35458234Free PMC Article
Pernicious anemia: Pathophysiology and diagnostic difficulties.
Htut TW, Thein KZ, Oo TH
J Evid Based Med 2021 May;14(2):161-169. Epub 2021 May 20 doi: 10.1111/jebm.12435. PMID: 34015185
Autoimmune Gastritis.
Hall SN, Appelman HD
Arch Pathol Lab Med 2019 Nov;143(11):1327-1331. doi: 10.5858/arpa.2019-0345-RA. PMID: 31661309
Megaloblastic Anemias: Nutritional and Other Causes.
Green R, Datta Mitra A
Med Clin North Am 2017 Mar;101(2):297-317. Epub 2016 Dec 14 doi: 10.1016/j.mcna.2016.09.013. PMID: 28189172
Vitamin B12 deficiency.
Oh R, Brown DL
Am Fam Physician 2003 Mar 1;67(5):979-86. PMID: 12643357

Therapy

Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study.
Kjaergaard AD, Teumer A, Marouli E, Deloukas P, Kuś A, Sterenborg R, Åsvold BO, Medici M, Ellervik C
Hum Mol Genet 2022 Aug 17;31(15):2548-2559. doi: 10.1093/hmg/ddac052. PMID: 35225327
Pernicious anemia.
Thomes RM, Rosenstein LJ
Blood 2020 May 7;135(19):1719. doi: 10.1182/blood.2020005344. PMID: 32379881
Nutritional neuropathies.
Gwathmey KG, Grogan J
Muscle Nerve 2020 Jul;62(1):13-29. Epub 2019 Dec 26 doi: 10.1002/mus.26783. PMID: 31837157
Toxicity induced by multiple high doses of vitamin B(12) during pernicious anemia treatment: a case report.
Morales-Gutierrez J, Díaz-Cortés S, Montoya-Giraldo MA, Zuluaga AF
Clin Toxicol (Phila) 2020 Feb;58(2):129-131. Epub 2019 Apr 24 doi: 10.1080/15563650.2019.1606432. PMID: 31018715
Vitamin B12 deficiency.
Oh R, Brown DL
Am Fam Physician 2003 Mar 1;67(5):979-86. PMID: 12643357

Prognosis

Vitamin B12 deficiency.
Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Pernicious anemia.
Thomes RM, Rosenstein LJ
Blood 2020 May 7;135(19):1719. doi: 10.1182/blood.2020005344. PMID: 32379881
Anemia in thyroid diseases.
Szczepanek-Parulska E, Hernik A, Ruchała M
Pol Arch Intern Med 2017 May 31;127(5):352-360. Epub 2017 Mar 28 doi: 10.20452/pamw.3985. PMID: 28400547
GAD65 neurological autoimmunity.
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151

Clinical prediction guides

Incidence, prevalence, and co-occurrence of autoimmune disorders over time and by age, sex, and socioeconomic status: a population-based cohort study of 22 million individuals in the UK.
Conrad N, Misra S, Verbakel JY, Verbeke G, Molenberghs G, Taylor PN, Mason J, Sattar N, McMurray JJV, McInnes IB, Khunti K, Cambridge G
Lancet 2023 Jun 3;401(10391):1878-1890. Epub 2023 May 5 doi: 10.1016/S0140-6736(23)00457-9. PMID: 37156255
Vitamin B12 deficiency.
Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Practice observed.
Gray S
Post Reprod Health 2018 Mar;24(1):50-52. doi: 10.1177/2053369118761322. PMID: 29554855
GAD65 neurological autoimmunity.
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151

Recent systematic reviews

Cobalamin deficiency presenting with thrombotic microangiopathy (TMA) features: A systematic review.
Tran PN, Tran MH
Transfus Apher Sci 2018 Feb;57(1):102-106. Epub 2018 Jan 11 doi: 10.1016/j.transci.2018.01.003. PMID: 29454538
Autoimmune comorbidity in chronic spontaneous urticaria: A systematic review.
Kolkhir P, Borzova E, Grattan C, Asero R, Pogorelov D, Maurer M
Autoimmun Rev 2017 Dec;16(12):1196-1208. Epub 2017 Oct 14 doi: 10.1016/j.autrev.2017.10.003. PMID: 29037900
Prior autoimmune disease and risk of monoclonal gammopathy of undetermined significance and multiple myeloma: a systematic review.
McShane CM, Murray LJ, Landgren O, O'Rorke MA, Korde N, Kunzmann AT, Ismail MR, Anderson LA
Cancer Epidemiol Biomarkers Prev 2014 Feb;23(2):332-42. Epub 2014 Jan 22 doi: 10.1158/1055-9965.EPI-13-0695. PMID: 24451437
Systematic review: gastric cancer incidence in pernicious anaemia.
Vannella L, Lahner E, Osborn J, Annibale B
Aliment Pharmacol Ther 2013 Feb;37(4):375-82. Epub 2012 Dec 10 doi: 10.1111/apt.12177. PMID: 23216458
Oral cobalamin (vitamin B(12)) treatment. An update.
Andrès E, Dali-Youcef N, Vogel T, Serraj K, Zimmer J
Int J Lab Hematol 2009 Feb;31(1):1-8. Epub 2008 Nov 19 doi: 10.1111/j.1751-553X.2008.01115.x. PMID: 19032377

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