Pernicious anemia: Pathophysiology and diagnostic difficulties

Area of Science:

• Autoimmune diseases
• Hematology
• Gastroenterology

Background:

• Pernicious anemia (PA) is the leading cause of vitamin B12 deficiency anemia globally.
• It is characterized by autoimmune chronic atrophic gastritis (CAG) and cobalamin deficiency (CD).
• PA onset is often insidious, with patients potentially remaining asymptomatic or misdiagnosed due to subtle symptoms.

Purpose of the Study:

• To review the pathophysiology of pernicious anemia.
• To discuss challenging clinical presentations and diagnostic difficulties associated with PA.
• To highlight the importance of prompt recognition of cobalamin deficiency symptoms.

Main Methods:

• Literature review on pernicious anemia.
• Analysis of pathophysiology, clinical presentations, and diagnostic challenges.
• Focus on autoimmune chronic atrophic gastritis and cobalamin deficiency.

Main Results:

• Pernicious anemia involves autoimmune chronic atrophic gastritis and cobalamin deficiency.
• Diagnostic challenges include unreliable cobalamin assays and conditions mimicking PA.
• Neurological sequelae can become irreversible if cobalamin deficiency is not promptly addressed.

Conclusions:

• Pernicious anemia diagnosis can be challenging due to its insidious nature and overlapping symptoms with other hematological conditions.
• Reliable diagnostic assays for cobalamin deficiency are needed.
• Prompt identification and management of PA are vital to prevent irreversible neurological complications.