Vitamins

Thiamine deficiency

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Thiamine deficiency, Chronic Thiamine deficiency, Beriberi

  • Definitions
  1. Beriberi
    1. Literal translation from Sinhalese: "I can't, I can't"
    2. Chronic Thiamine deficiency (contrast with Acute Thiamine Deficiency in Wernicke's Encephalopathy)
  • Epidemiology
  1. Rare in United States
  2. Long history in East Asia (related to diet high in polished rice)
  • Pathophysiology
  1. Nutritional disease from Chronic Thiamine deficiency
  • Causes
  1. Chronic Alcoholism (Wernicke's Encephalopathy - which differs as an Acute Thiamine Deficiency)
  2. Thiamine deficiency
  3. Malnutrition
  4. Total Parenteral Nutrition (TPN)
  5. Bariatric Surgery history (especially recent)
  6. Recurrent Vomiting
  7. Hyperemesis Gravidarum
  8. Diuresis
  9. Dialysis
  10. High Carbohydrate intake
  11. Malignancy
  12. Exclusively Breast fed children of Thiamine deficient mothers
  • Symptoms
  1. Weakness, irritability
  2. Nausea, Vomiting
  3. Burning feet
  4. Pruritus
  5. Xerostomia
  • Signs
  1. Neurologic
    1. Ataxia (see Wernicke's Encephalopathy)
    2. Tremor
    3. Diminished reflexes in lower limbs
    4. Symmetric distal peripheral sensory-motor Neuropathy (Dry Beriberi)
    5. Muscle atrophy
    6. Aphonia (laryngeal nerve paralysis)
    7. Vision Loss may occur due to optic atrophy
    8. Children may initially present with irritability, restlessness and Vomiting
  2. Cardiac: Congestive Heart Failure, esp. right sided (Wet Beriberi)
    1. Pedal Edema
    2. Pleural Effusions
    3. Tachycardia
  • Lab
  1. Complete Blood Count
    1. Anemia
  2. Specific diagnostic testing for Thiamine deficiency
    1. Blood Thiamine (decreased)
    2. Erythrocyte Thiamine transketolase (decreased)
    3. Thiamine Pyrophosphate effect (TPPE)
      1. Most accurate test for Thiamine deficiency
      2. Erythrocyte Thiamine transketolase measured before and after Thiamine administration
      3. Thiamine deficiency confirmed with comparative increase of more than 15%
  3. Other labs
    1. Serum Magnesium (typically low)
  • Diagnosis
  1. Test dose of Thiamine results in no urinary excretion
  1. Cardiomegaly
  • Management
  1. Thiamine 50-100 mg IV or PO daily for 7-14 days
  • References
  1. Rendon et al. (2017) Crit Dec Emerg Med 31(6): 15-21