Beriberi (Thiamine Deficiency) Workup

Updated: Mar 02, 2017
  • Author: Dieu-Thu Nguyen-Khoa, MD, FACP; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Approach Considerations

For practical reasons, replacing thiamine as an initial test may be most feasible. If the patient responds to treatment, it is safe to assume that a measure of thiamine deficiency was responsible for the condition. Thiamine is not toxic in high levels, which means that this route carries little risk. In addition, time is saved in treating the patient and money is saved in testing. (However, although observation of a patient's clinical response to thiamine administration remains the easiest, least expensive form of testing, clinicians usually miss the subclinical forms of beriberi.)

If laboratory confirmation is needed, measure blood thiamine, pyruvate, alpha-ketoglutarate, lactate, and glyoxylate levels. Also, measure urinary excretion of thiamine and its metabolites. A scarcity of any of these chemicals strongly suggests thiamine deficiency. [10]

In conjunction with whole blood or erythrocyte transketolase activity preloading and postloading, a thiamine loading test is the best indicator of thiamine deficiency. An increase of more than 15% in enzyme activity is a definitive marker of deficiency. However, this test is expensive and time consuming; it is performed only for criterion-standard proof of deficiency.

Measure urinary methylglyoxal; also measure serum thyroid-stimulating hormone (TSH), to rule out thyrotoxicosis-induced high-output heart failure, if applicable.

An increase in troponin I has been found in heart failure due to thiamine deficiency. [37] Thiamine is an important enzymatic cofactor in several energy pathways. Its deficiency disrupts cellular processes and leads to myocardial death. Thiamine is also an important factor in the cellular production of glutathione, an antioxidant that myocardial cells need to counteract free radicals. In the absence of glutathione, these cells would die prematurely.

Metabolic acidosis can be seen in thiamine deficiency. This is due to increased lactic acid production from thiamine deficiency. Thiamine pyrophosphate (thiamine derivative) is the coenzyme for the conversion of pyruvate to acetyl coenzyme A. Without it, pyruvate is under used and converts to lactate. It is important to consider thiamine deficiency in the presence of unexplained metabolic acidosis, specifically, lactic acidosis. [38, 21]

Gastrointestinal beriberi is a condition in which patients report abdominal pain due to lactic acidosis. [39]

A retrospective study by Wani et al indicated that cranial ultrasonography can be used in the diagnosis of infantile encephalitic beriberi, with a finding of hyperechogenicity of the basal ganglia having a sensitivity and specificity of 71% and 92%, respectively, for the disease. [40]