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Annals of the New York Academy of... Aug 2021Thiamine is an essential water-soluble vitamin that plays an important role in energy metabolism. Thiamine deficiency presents many challenges to clinicians, in part due... (Review)
Review
Thiamine is an essential water-soluble vitamin that plays an important role in energy metabolism. Thiamine deficiency presents many challenges to clinicians, in part due to the broad clinical spectrum, referred to as thiamine deficiency disorders (TDDs), affecting the metabolic, neurologic, cardiovascular, respiratory, gastrointestinal, and musculoskeletal systems. Concurrent illnesses and overlapping signs and symptoms with other disorders can further complicate this. As such, TDDs are frequently misdiagnosed and treatment opportunities missed, with fatal consequences or permanent neurologic sequelae. In the absence of specific diagnostic tests, a low threshold of clinical suspicion and early therapeutic thiamine is currently the best approach. Even in severe cases, rapid clinical improvement can occur within hours or days, with neurological involvement possibly requiring higher doses and a longer recovery time. Active research aims to help better identify patients with thiamine-responsive disorders and future research is needed to determine effective dosing regimens for the various clinical presentations of TDDs. Understanding the clinical diagnosis and global burden of thiamine deficiency will help to implement national surveillance and population-level prevention programs, with education to sensitize clinicians to TDDs. With concerted effort, the morbidity and mortality related to thiamine deficiency can be reduced.
Topics: Age Factors; Beriberi; Combined Modality Therapy; Diagnosis, Differential; Disease Management; Disease Transmission, Infectious; Humans; Organ Specificity; Population Surveillance; Symptom Assessment; Thiamine; Thiamine Deficiency
PubMed: 33305487
DOI: 10.1111/nyas.14536 -
Brain and Behavior May 2018The Brighton Collaboration criteria have standardized the clinical and laboratory-supported diagnosis of Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS)...
The Brighton Collaboration criteria have standardized the clinical and laboratory-supported diagnosis of Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS) in a way that is applicable in many parts of the world with variable resources. The caveat within the criteria, "absence of an identified alternative diagnosis for weakness" makes GBS a diagnosis of exclusion. Accurate diagnosis of GBS requires a good understanding of an updated, locally contextualised list of mimics, and features that distinguish them from GBS.
Topics: Adult; Aged; Beriberi; Diagnosis, Differential; Encephalitis; Female; Follow-Up Studies; Guillain-Barre Syndrome; Humans; Male; Middle Aged; Miller Fisher Syndrome; Patient Care Management; Singapore; Symptom Assessment
PubMed: 29761013
DOI: 10.1002/brb3.960 -
The American Journal of Case Reports Mar 2019BACKGROUND Beriberi due to thiamine (vitamin B1) deficiency has two clinical presentations. Patients with dry beriberi present with neuropathy, and patients with wet...
Dry Beriberi Due to Thiamine Deficiency Associated with Peripheral Neuropathy and Wernicke's Encephalopathy Mimicking Guillain-Barré syndrome: A Case Report and Review of the Literature.
BACKGROUND Beriberi due to thiamine (vitamin B1) deficiency has two clinical presentations. Patients with dry beriberi present with neuropathy, and patients with wet beriberi present with heart failure, with or without neuropathy. Dry beriberi can mimic the most common form of Guillain-Barre syndrome (GBS), an acute inflammatory demyelinating polyradiculoneuropathy (AIDP). Severe thiamine deficiency results in Wernicke's encephalopathy. This report of a case of dry beriberi and Wernicke's encephalopathy due to thiamine deficiency includes a review of the literature. CASE REPORT A 56-year old woman with a history of gallstone pancreatitis and protein-calorie malnutrition was treated six months previously with total parenteral nutrition (TPN). She initially presented at another hospital with paresthesia of the lower limbs, arms, and neck, and symptoms of encephalopathy. Initial diagnosis of GBS was made, based on magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) findings. Despite five days of intravenous immunoglobulin (IVIG) treatment, her encephalopathy worsened, requiring transfer to our hospital, where she required intubation and treatment with vasopressors. A repeat MRI of her brain showed changes consistent with Wernicke's encephalopathy. Following treatment with high-dose intravenous thiamine, her mental status improved within 48 hours, and by the third hospital day, she no longer required intubation. CONCLUSIONS Symptoms and signs of dry beriberi due to thiamine deficiency can mimic those of acute or chronic GBS. However, thiamine repletion leads to rapid clinical improvement and can prevent irreversible neurologic sequelae, including Korsakoff syndrome. Clinicians should consider thiamine deficiency in malnourished patients presenting with symptoms and signs of GBS.
Topics: Beriberi; Diagnosis, Differential; Female; Guillain-Barre Syndrome; Humans; Middle Aged; Peripheral Nervous System Diseases; Thiamine Deficiency; Wernicke Encephalopathy
PubMed: 30862772
DOI: 10.12659/AJCR.914051 -
Tidsskrift For Den Norske Laegeforening... Apr 2021
Topics: Beriberi; Heart Failure; Humans; Thiamine
PubMed: 33876616
DOI: 10.4045/tidsskr.21.0215 -
ChemistryOpen Apr 2017Thiamine (vitamin B1) is essential to the health of all living organisms and deficiency has long been associated with diseases in animals such as fish, birds,... (Review)
Review
Thiamine (vitamin B1) is essential to the health of all living organisms and deficiency has long been associated with diseases in animals such as fish, birds, alligators, and domesticated ruminant mammals. Thiamine is also implicated in several human diseases including Alzheimer's, diabetes, dementia, depression and, most notably, Wernicke-Korsakoff syndrome and Beriberi disease. Yet, highly sensitive and specific detection of thiamine remains an analytical challenge, as pM to nm levels of thiamine need to be detected in environmental and human samples, respectively, various phosphorylated variants need to be discriminated, and rapid on-site detection would be highly desirable. Furthermore, appropriate sample preparation is mandatory, owing to the complexity of the relevant sample matrices including fish tissues, ocean water, and body fluids. This Review has two objectives. First, it provides a thorough overview of analytical techniques published for thiamine detection over the last 15 years. Second, it describes the principles of analytical approaches that are based on biorecognition and may open up new avenues for rapid and high-throughput thiamine analysis. Most notably, periplasmic binding proteins, ribozymes, and aptamers are of particular interest, as they function as bioaffinity recognition elements that can fill an important assay technology gap, owing to the unavailability of thiamine-specific commercial antibodies. Finally, the authors provide brief evaluations of key outcomes of the major assay concepts and suggest how innovative techniques could help develop sensitive and specific thiamine analytical test systems.
PubMed: 28413748
DOI: 10.1002/open.201600160 -
Nutrition Reviews Dec 2020Beriberi is a nutritional complication of gastric surgery, caused by deficiency of vitamin B1, or thiamine. Thiamine deficiency leads to impaired glucose metabolism,... (Review)
Review
Beriberi is a nutritional complication of gastric surgery, caused by deficiency of vitamin B1, or thiamine. Thiamine deficiency leads to impaired glucose metabolism, decreased delivery of oxygen by red blood cells, cardiac dysfunction, failure of neurotransmission, and neuronal death. This review describes the history and pathophysiology of beriberi as well as the relationship between beriberi and nutritional deficiencies after gastric surgery. A literature review of the history and pathophysiology of beriberi and the risk factors for thiamine deficiency, particularly after gastric resection or bariatric surgery, was performed. Recommendations for nutritional follow-up post gastric surgery are based on current national guidelines. Patients may have subclinical thiamine deficiency after upper gastrointestinal surgery, and thus beriberi may be precipitated by acute illness such as sepsis or poor dietary intake. This may occur very soon or many years after gastrectomy or bariatric surgery, even in apparently well-nourished patients. Prompt recognition and administration of supplemental thiamine can decrease morbidity and mortality in patients with beriberi. Dietary education post surgery and long-term follow-up to determine nutritional status, including vitamin and mineral assessment, is recommended for patients who undergo gastric surgery.
Topics: Bariatric Surgery; Beriberi; Dietary Supplements; Digestive System Surgical Procedures; Gastrectomy; Humans; Malnutrition; Nutritional Status; Stomach; Thiamine; Thiamine Deficiency; Vitamin B Complex
PubMed: 32388553
DOI: 10.1093/nutrit/nuaa004 -
Journal of Neurology Nov 2019
Topics: Animals; Beriberi; History, 19th Century; History, 20th Century; Humans; Nobel Prize; Physicians
PubMed: 30588543
DOI: 10.1007/s00415-018-9162-7 -
Journal of Clinical Biochemistry and... Jul 2020Vitamin deficiency causes classical deficiency diseases such as beriberi and rickets. Vitamin insufficiency, which is milder than deficiency, is a risk for various... (Review)
Review
Vitamin deficiency causes classical deficiency diseases such as beriberi and rickets. Vitamin insufficiency, which is milder than deficiency, is a risk for various chronic diseases, but its significance has not been recognized in Japan. Vitamin D insufficiency is quite common in Japan, and a serious risk for osteoporotic fracture through its unbeneficial effect on bone and muscle. Insufficiency of B vitamins has been little studied. However, hyperhomocysteinemia caused by the insufficiency of vitamin B or folate is a risk for cardiovascular disease, osteoporotic fracture, and cognitive impairment. Additionally, we have recently reported that vitamin B insufficiency is a risk for heart failure in the elderly. The effect of improvement of nutritional status including vitamins is less marked compared to drug treatment, but it costs far less, and is suited for the primary prevention of diseases. Randomized controlled trial is considered the study with the most robust evidence in the evaluation of drug treatment, but more emphasis should be put on the well-designed cohort studies in evaluating the role of nutrients. Vitamin insufficiency is quite prevalent, and vitamin requirement is much higher for its prevention than for the prevention of deficiency.
PubMed: 32801464
DOI: 10.3164/jcbn.20-56