Causes of pernicious anemia

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Causes of Pernicious Anemia

Autoimmune Gastritis and Intrinsic Factor Deficiency

Pernicious anemia (PA) is primarily caused by an autoimmune response that leads to chronic atrophic gastritis (CAG). This condition results in the destruction of the stomach's parietal cells, which are responsible for producing intrinsic factor (IF), a glycoprotein essential for vitamin B12 absorption 134. The lack of intrinsic factor prevents the proper absorption of vitamin B12 from the terminal ileum, leading to cobalamin deficiency (CD) 69.

Genetic Susceptibility

Genetic factors also play a significant role in the development of pernicious anemia. Genome-wide association studies have identified several genetic loci associated with an increased risk of PA, including PTPN22, PNPT1, HLA-DQB1, IL2RA, and AIRE genes 28. These genetic markers suggest a hereditary predisposition to the autoimmune processes that lead to the destruction of parietal cells and intrinsic factor deficiency.

Association with Other Autoimmune Disorders

Pernicious anemia is frequently associated with other autoimmune disorders, such as type 1 diabetes, vitiligo, and autoimmune thyroid diseases 248. This association underscores the autoimmune nature of PA, where the body's immune system mistakenly attacks its own tissues, including the gastric mucosa and intrinsic factor.

Helicobacter pylori Infection

Long-standing infection with Helicobacter pylori has been implicated in the pathogenesis of pernicious anemia. The infection can lead to chronic inflammation and atrophy of the gastric mucosa, eventually triggering an autoimmune response that results in the destruction of parietal cells and intrinsic factor deficiency .

Diagnostic Challenges

Diagnosing pernicious anemia can be challenging due to its diverse clinical presentations and the limitations of current diagnostic tools. Patients may present with non-specific symptoms or even normal cobalamin levels, complicating the diagnosis 379. The presence of intrinsic factor and parietal cell antibodies can serve as useful markers for PA, but their sensitivity and specificity vary 410.

Conclusion

Pernicious anemia is a multifaceted disorder primarily caused by autoimmune gastritis leading to intrinsic factor deficiency and subsequent vitamin B12 deficiency. Genetic susceptibility and associations with other autoimmune disorders further complicate its pathogenesis. Despite advances in understanding the disease, diagnostic challenges remain, necessitating a high index of suspicion and comprehensive diagnostic approaches to manage and treat PA effectively.

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Most relevant research papers on this topic

Pernicious Anemia: The Hematological Presentation of a Multifaceted Disorder Caused by Cobalamin Deficiency

Pernicious anemia, caused by cobalamin deficiency, can lead to serious long-term complications and gastric cancer, requiring timely diagnosis and optimal clinical management.

Very Rigorous Journal

2022·

39citations

·G. Esposito et al.

Genome-wide association study identifies five risk loci for pernicious anemia

Pernicious anemia is associated with genetic risk factors in the PTPN22, PNPT1, HLA-DQB1, IL2RA, and AIRE genes.

Meta-Analysis

2021·

11citations

·T. Laisk et al.

Pernicious anemia: Pathophysiology and diagnostic difficulties

Pernicious anemia is an autoimmune disease with challenging clinical presentations and diagnostic difficulties, requiring prompt recognition and treatment with vitamin B12 replacement.

Literature Review

2021·

33citations

·Thura Win Htut et al.

Pernicious anemia: new insights from a gastroenterological point of view.

Pernicious anemia is a common, autoimmune disease with a genetic susceptibility, and should be managed with cobalamin replacement and monitoring for iron deficiency.

Highly Cited

2009·

245citations

·E. Lahner et al.

STUDIES OF THE CHEMISTRY OF PERNICIOUS ANEMIA

Squier1has written an interesting and comprehensive review of the literature on the chemistry of pernicious anemia. Though a number of researches have been made on the pathochemistry of this very fatal disease, its causative factor is still unknown. Whether it is essentially a disease of the gastro-intestinal tract, with atrophy of the gastric mucosa and the absorption either of enterogenous poisons or protein split products, or whether it is a disturbance due to the hemolytic action of toxins elaborated in disease processes, or whether the disease is caused by hypersplenism, are the three main hypotheses in this mooted question. The evidence brought forward by those authors who favor one or the other of these theories is not conclusive. A large number of chemical substances, such as oleic acid, saponins, phenylhydrazin, b-amino-azolyl-ethyl benzaldehyd, p-oxyphenylethylamin, etc., are violent hemolytic agents, and experimentally such poisons will produce anemia and hemoglobinuria, etc., but

Literature Review

1919·

17citations

·M. Kahn et al.

Current concepts of pernicious anemia.

Pernicious anemia is caused by a lack of intrinsic factor in gastric secretion, with various genetic backgrounds and somatic influences contributing to its development.

1970·

38citations

·W. Castle

Challenging clinical presentations of pernicious anemia.

Pernicious anemia presents diverse clinical manifestations, making diagnosis challenging for clinicians due to limitations in current diagnostic tools and diverse clinical presentations.

2017·

18citations

·T. Oo et al.

Genome-wide association study identifies five risk loci for pernicious anemia and implicates the role of HLA-DR15 haplotype

Pernicious anemia is associated with five genetic risk loci and the HLA-DR15 haplotype, highlighting the need for further genetic research on autoimmune disorders.

Meta-AnalysisPreprint

2020·

0citations

·T. Laisk et al.

Nonhematological Manifestations of Pernicious Anemia.

Nonhematological manifestations of pernicious anemia can present in patients, even in the absence of hematological findings, making diagnosis challenging.

2022·

2citations

·T. Oo

Diagnosis and Management of Pernicious Anemia

Pernicious anemia is a macrocytic anemia caused by cobalamin deficiency, and its management involves lifelong cobalamin treatment and monitoring for iron deficiency.

2011·

56citations

·B. Annibale et al.

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