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Thiamine deficiency is caused by a low level of thiamine (vitamin B1) in the body, and when severe, a deficiency may manifest in adults as beriberi.
There are two main forms:
wet beriberi: high-output cardiac failure predominates
Shoshin beriberi 3: severe acute wet form with high mortality
dry beriberi: neurological dysfunction predominates
In practice patients may present with mixed beriberi, i.e. with elements of both the wet and dry forms.
symptoms may include dyspnea, palpitations, fatigue
exam may reveal signs of elevated filling pressures including jugular venous distention and/or pulmonary vascular congestion
periphery may be warm with vigorous palpable arterial pulses
secondary to a low systemic vascular resistance with vasodilation
bedside point of care ultrasonography may demonstrate:
dilation of the inferior vena cava with diminished respiratory variation
bilateral, symmetric lung rockets (>3 B lines per sonographic field) in a gravitationally dependent distribution
an elevated left ventricular outflow tract velocity time integral (VTI) consistent with a high stroke distance (and by extension cardiac output)
ranging from subtle memory impairment to profound encephalopathy
vestibulo-cerebellar dysfunction predominantly affecting the lower extremities and gait
particularly oculomotor abnormalities e.g. nystagmus, ophthalmoplegia
sensory and/or motor deficits
axonal degeneration with resultant myopathy and neuropathy
areflexia may also be noted
Tachycardia is common with early in the disease course, and assessment of a core temperature may demonstrate hypothermia. Tachypnea may also be present with a respiratory alkalosis on a blood gas. An elevated serum lactate may be present.
Confirmatory testing may include a whole blood thiamine level or an erythrocyte transketolase activity; the latter may be reassessed after thiamine repletion. can confirm the diagnosis.
Deficiency is typically related to insufficient thiamine intake, decreased gastrointestinal absorption, or increased elimination. Congenital causes are also a consideration, albeit with a far lower incidence.
restricted ("fad") diets
frequent ethanol consumption
prolonged or poorly constructed total parenteral nutrition (TPN)
gastrointestinal malabsorptive disorders
renal replacement therapy
post-starvation refeeding syndrome
prior bariatric surgery e.g. gastric banding 1
The imaging features of beriberi reflect its underlying manifestations, and therefore in dry beriberi, cardiomegaly, pulmonary edema, dilated cardiomyopathy may be seen; however there are no pathognomonic cardiac imaging findings 5.
In wet beriberi the classic MRI features of Wernicke encephalopathy may be seen.
In general radiology is a corroborative tool in beriberi. The diagnosis is usually clinical with response to supplemental thiamine confirmatory.
Treatment and prognosis
Optimal treatment of beriberi relies upon a two-pronged approach:
commonly administered parenterally, often with magnesium
biotin may be administered for certain genetic causes e.g. loss of low-affinity thiamine uptake transporter function
supportive therapies e.g. cardiac support
Recovery is often rapid once thiamine supplements are started.
History and etymology
Beriberi derives from the Sinhalese for "weak, weak", a deliberate duplication of the same word to emphasize how poorly a patient with the condition feels 2.
An unrecognized nutrient on the surface of rice which was eliminated during the polishing process was speculated to be the nutritional factor deficient in beriberi in 1901 by Gerrit Grijns (1865-1944). The structure of thiamine was defined by Robert R Williams (1886-1965) and colleagues in 1934, and in 1936 was demonstrated in an avian model to reverse the metabolic derangement in aerobic glucose utilization present in thiamine deficiency.
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