Thiamine was the first vitamin identified (vitamin B1) many years ago. It functions as a catalyst in the generation of energy through decarboxylation of branched-chain amino acids and alpha-ketoacids and acts as a coenzyme for transketolase reactions in the form of thiamine pyrophosphate. Thiamine also plays an unidentified role in the propagation of nerve impulses and takes part in myelin sheath maintenance.
This water-soluble vitamin is present in meat, beef, pork, legumes, whole grains, and nuts; however, milled rice and grains have little amounts of thiamine as the processing involved in creating these food products removes thiamine. Additionally, certain food products such as tea, coffee, raw fish, and shellfish, contain thiaminases - enzymes that destroy thiamine.
Deficiency of thiamine can affect the cardiovascular, nervous, and immune system, as is commonly seen in wet beriberi, dry beriberi, or as Wernicke-Korsakoff syndrome. Worldwide it is most widely reported in populations where polished rice and milled cereals are the primary food source, and also in patients with chronic alcohol abuse. Dry beriberi presents as symmetrical peripheral neuropathy while wet beriberi presents with high-output heart failure. Wernicke-Korsakoff syndrome (WKS) can manifest with CNS symptoms such as gait changes, altered mental status, and ocular abnormalities.
Deficiency of thiamine can be related to :
Increased thiamine utilization
Worldwide, thiamine deficiency is primarily due to inadequate dietary intake, specifically in diets comprised mainly of polished rice and grains. In Western countries, it most commonly presents in patients suffering from alcoholism or chronic illness. Special populations of individuals also at risk for thiamine deficiency include pregnant women, those requiring parental feeding, individuals who have undergone bariatric surgery, those with overall poor nutritional status, and patients on chronic diuretic therapy as it increases urinary losses. Deficiency of this vitamin in women can cause infantile beriberi, which this article will not specifically address.
When evaluating for thiamine deficiency, the typical history may include poor nutritional intake, excessive alcohol intake, or the patient belonging to the special populations of individuals previously mentioned (pregnant women, recipients of bariatric surgery, patients with prolonged diuretic use, anyone with poor overall nutritional status, etc.).
Initial symptoms of B1 deficiency include anorexia, irritability, and difficulties with short-term memory. With prolonged thiamine deficiency, patients may endorse loss of sensation in the extremities, symptoms of heart failure including swelling of the hands or feet and chest pain related to demand ischemia, or feelings of vertigo, double vision, and memory loss. Additionally, close friends and family of the patient may describe confusion or symptoms of confabulation.
Wet beriberi - cardiovascular compromise related to impaired myocardial energy metabolism and dysautonomia:
Wet and dry beriberi often have overlapping features, and in either condition, paresthesias may be a presenting feature.
Wernicke’s encephalopathy (WE) is a classic triad of ocular abnormalities (nystagmus, ophthalmoplegia), confusion, and gait changes such as ataxia.
Detection of thiamine deficiency relies on relevant history and physical exam findings and follow up with laboratory testing for confirmation.Laboratory Studies:
Consider other diagnostic studies based on presentation and comorbid conditions (transthoracic echo or TSH measurements in new heart failure, for example).
MR: most common abnormalities seen with WE are symmetric changes in the thalamus, mamillary bodies, periaqueductal area, and tectal plate.
Treatment of acute thiamine deficiency with cardiovascular or neurologic signs/symptoms :
200mg intravenous (IV) or orally (PO) thiamine three times daily until symptoms resolve or improvement plateaus, at which time the patient should transition to 10mg/day oral thiamine until expected recovery is complete.
Treatment of thiamine deficiency with suspected WKS :
**Always give thiamine during the re-feeding period in a patient with alcoholism to prevent acute thiamine deficiency with lactic acidosis.**
Symptoms consistent with Wernicke-Korsakoff syndrome may persist for several months or may be permanent.
Other symptoms of thiamine deficiency such as anorexia and irritability are expected to improve gradually.
The differential diagnosis for thiamine deficiency is broad given the number of nonspecific symptoms which may occur during the initial stages of this condition and the extensive range of cardiac and nervous dysfunction related to thiamine deficiency.
Conditions to consider:
The overall prognosis for patients with thiamine deficiency is good as it is easily treatable and most signs and symptoms of the deficiency fully resolve with thiamine supplementation. Cardiac dysfunction seen in wet beriberi can be expected to improve within 24 hours of initiation of treatment. Symptoms of dry beriberi may improve or resolve. Unfortunately, once the deficiency has progressed to Korsakoff syndrome, the patient may show minimal improvement during initial treatment, and remaining symptoms may be permanent.
There are no known toxicities associated with thiamine repletion.
Some reports of anaphylaxis and bronchospasm with high-dose intravenous thiamine exist.
Preventing this condition is as simple as ensuring total body levels of thiamine are adequate for metabolic processes. Education of patients who are at risk of deficiency is imperative, and any further counseling should point towards the underlying cause of the condition. For instance, patients who are undergoing alcohol detoxification should receive counseling on the signs, symptoms, and long-term effects of Korsakoff syndrome and a multidisciplinary team should be engaged to ensure the patient has adequate resources for detoxication and follow-up care.
Enhancing healthcare team outcomes related to this condition is dependent on the cause. For deficiency related to excessive alcohol intake, steps to ensure the successful cessation of alcohol use may involve a multidisciplinary approach involving the medical team, social workers, community resources, and the use of inpatient or outpatient treatment strategies. In instances of inadequate dietary intake, nutritional counseling with a nutritionist or certified dietician may be in order.
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