Pernicious anemia revisited
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Published on: January 19, 2024
1Division of Hematology and Internal Medicine, Mayo Clinic Rochester, MN 55905.
Insights
Pernicious anemia (PA) is a treatable hematologic disorder. Diagnosis can be challenging, but urinary methylmalonic acid levels offer a practical alternative for detecting cobalamin deficiency.
Area of Science:
- Hematology
- Internal Medicine
Background:
- Pernicious anemia (PA) is a condition affecting various organ systems.
- Patients may present with diverse symptoms or be asymptomatic.
- Hematologic parameters can be normal despite cobalamin deficiency.
Purpose of the Study:
- To review the pathophysiology, clinical presentation, diagnosis, and treatment of PA.
- To discuss advancements in diagnostic and therapeutic approaches for PA.
Main Methods:
- Literature review focusing on clinical applications and progress in PA diagnosis and treatment.
- Evaluation of diagnostic methods for cobalamin deficiency, including urinary methylmalonic acid and the Schilling test.
Main Results:
- Lifelong vitamin B12 therapy is essential for managing PA.
- Intramuscular administration is the customary route for vitamin B12, though alternatives exist.
- Urinary methylmalonic acid is a potentially more sensitive and practical diagnostic marker.
Conclusions:
- Pernicious anemia is a highly treatable hematologic condition.
- Early and accurate diagnosis is crucial for effective management.
Objective:
We discuss the pathophysiologic mechanisms, clinical features, diagnosis, and treatment of pernicious anemia (PA).
Design:
A review of the clinical applications of the diagnostic and therapeutic progress of PA is presented.
Material And Methods:
A patient with PA may have a wide range of initial complaints that affect various organ systems or may be entirely asymptomatic. Hematologic variables may be normal in patients with cobalamin (Cbl) deficiency. Because of the difficulties in diagnosing Cbl deficiency, alternatives to measuring Cbl have been sought. Determining the urinary methylmalonic acid level is a less invasive, more practical, and, possibly, more sensitive method. The Schilling test is performed for assessment of the absorption of orally ingested radiolabeled crystalline cyano-Cbl; results should be interpreted cautiously.
Results:
Vitamin B12 therapy should be lifelong. It is customarily administered intramuscularly. Other routes of administration have been studied.
Conclusion:
PA is one of the most treatable hematologic disorders.
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