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Beriberi
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Beriberi

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Contributors: Shea A. Nagle BA, Christine Osborne MD, Marilyn Augustine MD, Michael W. Winter MD
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Synopsis

Thiamine, or vitamin B1, is an essential water-soluble vitamin found in yeast, legumes, pork, brown rice, nuts, and cereals. Thiamine pyrophosphate is an important cofactor for several enzymes in glucose metabolism, including pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, and transketolase, among others. Thiamine deficiency can thus impair enzyme function and result in the following disorders:
  • Infantile beriberi – Secondary to thiamine-deficient mothers exclusively breastfeeding or absence of thiamine in formula.
  • Adult beriberi, dry – Characterized by symmetrical distal extremity peripheral neuropathy.
  • Adult beriberi, wet – Characterized by dilated cardiomyopathy and peripheral edema.
  • Shoshin beriberi – Fulminant wet beriberi characterized by cardiogenic shock, lactic acidosis, and multiple organ failure.
  • Alcohol amnestic disorder – Wernicke encephalopathy is a triad of nystagmus, ophthalmoplegia, and ataxia with associated confusion. It is often found in people with alcohol use disorder who have chronic thiamine deficiency.
  • Leigh syndrome – A mitochondrial disorder of progressive subacute necrotizing encephalomyopathy of infancy associated with thiamine deficiency.
  • Tropical ataxic neuropathy – Condition endemic to Nigeria that is characterized by polyneuropathy, gait ataxia, bilateral optic atrophy, and deafness.
Thiamine deficiency is intrinsically linked to global poverty, food insecurity, and malnutrition. It is endemic to some areas in Southeast Asia, Africa, South America, and the Caribbean. Infants with malnourished mothers in these regions have the highest risk of developing thiamine deficiency. It is less common in developed countries where flour and infant formula are often fortified with thiamine. In the United States, alcohol use disorder is the most common cause of thiamine deficiency; however, it is also associated with human immunodeficiency virus (HIV) infection, hyperemesis gravidarum, anorexia nervosa, and bariatric surgery.

Codes

ICD10CM:
E51.11 – Dry beriberi
E51.12 – Wet beriberi

SNOMEDCT:
36656008 – Beriberi

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Differential for wet beriberi: Differential for dry beriberi: Differential for infantile beriberi:

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    Last Reviewed: 04/12/2019
    Last Updated: 05/08/2019
    Copyright © 2019 VisualDx®. All rights reserved.
    Beriberi
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    Beriberi (Infantile) : Vomiting, Cyanosis, Failure to thrive, Dyspnea, Weak cry
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