Vitamin B1 deficiency

Vitamin B1 (thiamine) deficiency is the underlying cause of several clinical syndromes, including Wernicke encephalopathy, wet beriberi, and dry beriberi.

Clinical presentation depends on the presence of comorbidities, age, and general susceptibility.

Signs and symptoms are often nonspecific. Risk factors include alcohol dependence, malabsorption, and a diet low in thiamine.

There is no rapid diagnostic test for the condition. Presumptive treatment with thiamine replacement therapy should be commenced immediately if vitamin B1 deficiency is suspected.

Untreated vitamin B1 deficiency can result in neurologic deficits, the need for long-term institutional care, or death.

Vitamin B1, also known as thiamine, is a water-soluble vitamin that is essential for energy metabolism.[1]Berger MM, Shenkin A, Schweinlin A, et al. ESPEN micronutrient guideline. Clin Nutr. 2022 Jun;41(6):1357-424. https://www.clinicalnutritionjournal.com/article/S0261-5614(22)00066-8/fulltext http://www.ncbi.nlm.nih.gov/pubmed/35365361?tool=bestpractice.com [2]Schostak T, San Millan I, Jani A, et al. Thiamine deficiency: a commonly unrecognised but easily treatable condition. Postgrad Med J. 2023 Aug;99(1174):844-8. https://academic.oup.com/pmj/article/99/1174/844/7147066 http://www.ncbi.nlm.nih.gov/pubmed/37125640?tool=bestpractice.com ​​ Deficiency can result in vague signs and symptoms and various clinical syndromes, including Wernicke encephalopathy, wet beriberi, Shoshin beriberi, dry beriberi, and infantile beriberi.

Wernicke encephalopathy is an acute neuropsychiatric syndrome that classically presents with the triad of altered mental status, ataxia, and ocular abnormalities (e.g., nystagmus, strabismus).[3]Chandrakumar A, Bhardwaj A, 't Jong GW. Review of thiamine deficiency disorders: Wernicke encephalopathy and Korsakoff psychosis. J Basic Clin Physiol Pharmacol. 2018 Oct 2;30(2):153-62. https://www.degruyter.com/document/doi/10.1515/jbcpp-2018-0075/html http://www.ncbi.nlm.nih.gov/pubmed/30281514?tool=bestpractice.com [4]Kohnke S, Meek CL. Don't seek, don't find: the diagnostic challenge of Wernicke's encephalopathy. Ann Clin Biochem. 2021 Jan;58(1):38-46. https://journals.sagepub.com/doi/full/10.1177/0004563220939604 http://www.ncbi.nlm.nih.gov/pubmed/32551830?tool=bestpractice.com ​​ It occurs secondary to acute thiamine deficiency. If untreated, Wernicke encephalopathy can lead to Korsakoff psychosis; this diagnosis is distinguished from Wernicke encephalopathy by characteristics such as retrograde and anterograde amnesia, inability to memorize new information, and confabulation (inventing events in order to compensate for lack of memory).[5]Popa I, Rădulescu I, Drăgoi AM, et al. Korsakoff syndrome: an overlook (review). Exp Ther Med. 2021 Oct;22(4):1132. https://pmc.ncbi.nlm.nih.gov/articles/PMC8383329 http://www.ncbi.nlm.nih.gov/pubmed/34466144?tool=bestpractice.com

Dry berberi is a symmetrical distal peripheral polyneuropathy with sensory and motor impairments.[6]Ott M, Werneke U. Wernicke's encephalopathy - from basic science to clinical practice. Part 1: understanding the role of thiamine. Ther Adv Psychopharmacol. 2020 Dec 29;10:2045125320978106. https://journals.sagepub.com/doi/full/10.1177/2045125320978106 http://www.ncbi.nlm.nih.gov/pubmed/33447357?tool=bestpractice.com [7]Polegato BF, Pereira AG, Azevedo PS, et al. Role of thiamin in health and disease. Nutr Clin Pract. 2019 Aug;34(4):558-64. http://www.ncbi.nlm.nih.gov/pubmed/30644592?tool=bestpractice.com ​​ It occurs secondary to chronic thiamine deficiency.

Wet beriberi describes high-output cardiac failure with characteristics such as peripheral vasodilation, peripheral edema, and tachycardia.[6]Ott M, Werneke U. Wernicke's encephalopathy - from basic science to clinical practice. Part 1: understanding the role of thiamine. Ther Adv Psychopharmacol. 2020 Dec 29;10:2045125320978106. https://journals.sagepub.com/doi/full/10.1177/2045125320978106 http://www.ncbi.nlm.nih.gov/pubmed/33447357?tool=bestpractice.com [7]Polegato BF, Pereira AG, Azevedo PS, et al. Role of thiamin in health and disease. Nutr Clin Pract. 2019 Aug;34(4):558-64. http://www.ncbi.nlm.nih.gov/pubmed/30644592?tool=bestpractice.com ​ Shoshin beriberi is a more severe form of wet beriberi that involves rapid onset of low-output cardiac failure with lactic acidosis.[2]Schostak T, San Millan I, Jani A, et al. Thiamine deficiency: a commonly unrecognised but easily treatable condition. Postgrad Med J. 2023 Aug;99(1174):844-8. https://academic.oup.com/pmj/article/99/1174/844/7147066 http://www.ncbi.nlm.nih.gov/pubmed/37125640?tool=bestpractice.com [7]Polegato BF, Pereira AG, Azevedo PS, et al. Role of thiamin in health and disease. Nutr Clin Pract. 2019 Aug;34(4):558-64. http://www.ncbi.nlm.nih.gov/pubmed/30644592?tool=bestpractice.com ​​​ Wet beriberi occurs secondary to acute or chronic thiamine deficiency.

Gastrointestinal beriberi manifests as lactic acidosis and abdominal pain in acute deficiency, and can mimic acute bowel ischemia or infarction.[6]Ott M, Werneke U. Wernicke's encephalopathy - from basic science to clinical practice. Part 1: understanding the role of thiamine. Ther Adv Psychopharmacol. 2020 Dec 29;10:2045125320978106. https://journals.sagepub.com/doi/full/10.1177/2045125320978106 http://www.ncbi.nlm.nih.gov/pubmed/33447357?tool=bestpractice.com [8]Vu TND, Junker MS, Kurjatko A, et al. Gastrointestinal beriberi mimicking a surgical emergency in a well-nourished patient: a case report. Mayo Clin Proc Innov Qual Outcomes. 2019 Dec;3(4):506-9. https://www.mcpiqojournal.org/article/S2542-4548(19)30113-4/fulltext http://www.ncbi.nlm.nih.gov/pubmed/31993570?tool=bestpractice.com

Infantile beriberi consists of cardiogenic, aphonic, and pseudomeningitic forms, and mostly occurs in infants exclusively breastfed by mothers deficient in vitamin B1.[9]Kareem O, Nisar S, Tanvir M, et al. Thiamine deficiency in pregnancy and lactation: implications and present perspectives. Front Nutr. 2023 Apr 20;10:1080611. https://www.frontiersin.org/journals/nutrition/articles/10.3389/fnut.2023.1080611/full http://www.ncbi.nlm.nih.gov/pubmed/37153911?tool=bestpractice.com