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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

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
Selected disorders of malabsorption.
Siddiqui Z, Osayande AS
Prim Care 2011 Sep;38(3):395-414; vii. doi: 10.1016/j.pop.2011.05.002. PMID: 21872088

Diagnosis

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
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
Pernicious anemia.
Toh BH, van Driel IR, Gleeson PA
N Engl J Med 1997 Nov 13;337(20):1441-8. doi: 10.1056/NEJM199711133372007. PMID: 9358143
Pernicious anemia revisited.
Pruthi RK, Tefferi A
Mayo Clin Proc 1994 Feb;69(2):144-50. doi: 10.1016/s0025-6196(12)61041-6. PMID: 8309266

Therapy

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
Pernicious anemia.
Toh BH, van Driel IR, Gleeson PA
N Engl J Med 1997 Nov 13;337(20):1441-8. doi: 10.1056/NEJM199711133372007. PMID: 9358143
Alopecia areata.
Weitzner JM
Am Fam Physician 1990 Apr;41(4):1197-201. PMID: 2181836

Prognosis

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
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
Pernicious anaemia.
Toh BH, Alderuccio F
Autoimmunity 2004 Jun;37(4):357-61. doi: 10.1080/08916930410001705439. PMID: 15518059

Clinical prediction guides

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
Oftedal BE, Berger AH, Bruserud Ø, Goldfarb Y, Sulen A, Breivik L, Hellesen A, Ben-Dor S, Haffner-Krausz R, Knappskog PM, Johansson S, Wolff AS, Bratland E, Abramson J, Husebye ES
J Clin Invest 2023 Nov 1;133(21) doi: 10.1172/JCI169704. PMID: 37909333Free PMC Article
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

Recent systematic reviews

A Systematic Review of Symptoms of Pernicious Anemia.
Seage CH, Bennett A, Ward N, Semedo L, Plattel CHM, Suijker KIM, Vis JY, James DH
Food Nutr Bull 2024 Jun;45(1_suppl):S34-S39. doi: 10.1177/03795721241227016. PMID: 38987871
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
Risk Factors for Multiple Myeloma: A Systematic Review of Meta-Analyses.
Sergentanis TN, Zagouri F, Tsilimidos G, Tsagianni A, Tseliou M, Dimopoulos MA, Psaltopoulou T
Clin Lymphoma Myeloma Leuk 2015 Oct;15(10):563-77.e1-3. Epub 2015 Jun 19 doi: 10.1016/j.clml.2015.06.003. PMID: 26294217
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
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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