E51.1

Clinical Causes: Inadequate dietary intake of thiamine, commonly due to poor nutrition or calorie-restricted diets. Chronic alcoholism, which impairs thiamine absorption and utilization. Malabsorption syndromes, such as Crohn's disease or celiac disease, that hinder nutrient absorption. Increased metabolic demands, as seen in infections or hyperthyroidism,leading to thiamine depletion. Prolonged intravenous feeding without proper vitamin supplementation. Certain medical conditions like dialysis, which can increase nutrient loss. Some medications that interfere with thiamine metabolism or absorption.

Key Symptoms: Weakness and fatigue, often beginning in the legs. Neurological symptoms such as numbness, tingling, and difficulty walking. Muscle cramps and loss of muscle tone. Cardiovascular signs including rapid heartbeat, swelling due to fluid retention, and in severe cases, heart failure (wet beri-beri). Wernicke's encephalopathy, characterized by confusion, ocular abnormalities, and gait ataxia, particularly in alcoholics. Korsakoff syndrome, involving memory problems and confabulation, often following Wernicke's encephalopathy. In dry beriberi, predominant nervous system involvement leading to peripheral neuropathy.

Diagnosis Path: Measuring blood levels of thiamine or its active form, thiamine pyrophosphate (TPP). Erythrocyte transketolase activity assay, which indicates functional deficiency. Serum metabolic markers such as elevated lactate or pyruvate in severe cases. Neuroimaging for neurological symptoms, particularly in suspected Wernicke's encephalopathy.

Treatment Protocols: High-dose intravenous or oral thiamine supplementation, depending on severity. Managing underlying conditions such as alcohol dependence with support and counseling. Nutritional rehabilitation through a balanced diet rich in B vitamins. Monitoring for and preventing complications, especially in cases of heart failure or neurological impairment. Gradual reintroduction of nutrients to avoid adverse reactions.