Cobalamin deficiency resulting in a rare haematological disorder: a case report.

Journal of Medical Case Reports
Thomas M ChapuisPatrick Bodenmann

Abstract

We present the case of a patient with a cobalamin deficiency resulting in pancytopaenia, emphasizing the importance to define, diagnose and treat cobalamin deficiency. A 52-year-old man from the Democratic Republic of Congo presented to the emergency department with shortness of breath and a sore tongue. Physical examination was unremarkable. His haemoglobin was low and the peripheral blood smear revealed pancytopaenia with a thrombotic microangiopathy. The findings were low cobalamin and folate levels, and high homocysteine and methylmalonate levels. Pernicious anaemia with chronic atrophic gastritis was confirmed by gastric biopsy and positive antiparietal cell and anti-intrinsic factor antibodies. Cobalamin with added folate was given. Six months later, the patient was asymptomatic. Cobalamin deficiency should always be ruled out in a patient with pancytopaenia. Our case report highlights a life-threatening cobalamin deficiency completely reversible after treatment.

References

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Citations

Jun 17, 2016·International Journal of Critical Illness and Injury Science·Tanmay S PanchabhaiCharlene K Mitchell
Jul 7, 2020·BMJ Case Reports·Peiting ChenJen Chin Wang
Feb 24, 2021·Journal of General Internal Medicine·Henri Wathieu, Kristin M Bateman

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Methods Mentioned

BETA
X-ray
biopsy
bone marrow aspiration

Related Concepts

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Atrophic Gastritis

Atrophic Gastritis is a process where gastric glandular cells are lost and replaced with firbous tissues, as a result of chronic inflammation. Learn more about Atrophic Gastritis here.