Thiamine deficiency disorders: a clinical perspective.

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.

Pathophysiology, prevention, and treatment of beriberi after gastric surgery.

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.

Subacute myelo­optic neuropathy, beriberi, and HTLV­I­associated myelopathy: elucidation of some neurological diseases in Japan.

Personal experience of the discovery of the cause, pathophysiology, and treatment as well as prevention of subacute myelo­optic neuropathy, beriberi, and HTLV­I­associated myelopathy were described.

Cardiovascular magnetic resonance in wet beriberi.

The clinical presentation of beriberi can be quite varied. In the extreme form, profound cardiovascular involvement leads to circulatory collapse and death. This case report is of a 72 year-old male who was admitted to the Neurology inpatient ward with progressive bilateral lower extremity weakness and parasthesia. He subsequently developed pulmonary edema and high output cardiac failure requiring intubation and blood pressure support. With the constellation of peripheral neuropathy, encephalopathy, ophthalmoplegia, unexplained heart failure, and lactic acidosis, thiamine deficiency was suspected. He was empirically initiated on thiamine replacement therapy and his thiamine level pre-therapy was found to be 23 nmol/L (Normal: 80-150 nmol/L), consistent with the diagnosis of beriberi. Cardiovascular magnetic resonance (CMR) showed severe left ventricular systolic dysfunction, markedly increased myocardial T2, and minimal late gadolinium enhancement (LGE). After 5 days of daily 100 mg IV thiamine and supportive care, the hypotension resolved and the patient was extubated and was released from the hospital 3 weeks later. Our case shows via CMR profound myocardial edema associated with wet beriberi.

Clinical studies on rising and re-rising neurological diseases in Japan--a personal contribution.

Throughout my research life, I experienced to discover the causes of some neurological diseases in Japan. 1) SMON (subacute myelo-optico-neuropathy). Since the early 1960s, a peculiar neurological disease became prevalent throughout Japan. Through the chemical analysis of the green urine, characteristic of this disease, it was found that this disease was caused by intoxication of the administered clioquinol, an anti-diarrheal drug. This discovery is a big topic in the history of Japanese medicine. 2) In early 1970s, I experienced many young patients with oedema and polyneuropathy in Kagoshima. Finally it was found that the disease was the long-forgotten beriberi, which had disappeared several decades ago. We must always be aware of beriberi even now, as far as we eat well-polished rice. 3) In 1972, we noticed a group of sporadic paraparesis in Kagoshima, which was 20 years later confirmed to be induced by human T lymphotropic virus type-I (HTLV-I). We named this disease as "HTLV-I associated myelopathy" (HAM). It gave a strong impact that the causative virus of adult T cell leukemia (ATL) can induce entirely different diseases, in terms of both the clinical course and the pathological features. It was also proven that HAM was identical with tropical spastic paraparesis, (TSP), which had been prevalent in many areas of tropical zones. These experiences are good examples of our slogan "to keep in mind to send message of scientific progress from the local area to the international stage.

Cardiac beriberi: often a missed diagnosis.

Thiamine deficiency leads to various manifestations due to dysfunction of nervous or cardiovascular system, commonly known as dry and wet beriberi, respectively. The latter, also known as cardiac beriberi is usually missed in clinical practice because of the absence of classically described symptoms such as pedal edema/anasarca. We investigated 55 such infants and prospectively followed their clinical course. All the babies were exclusively breast-fed and their mothers belonged to low socio-economic status with their staple diet consisting of non-parboiled polished rice. Majority presented with tachypnea, chest indrawing and tachycardia and cardiomegaly with dilatation of right heart and pulmonary hypertension on 2D-echocardiography. Low levels of erythrocyte transketolase activity suggested thiamine deficiency that was confirmed by reversion of several clinical features including cardiologic abnormalities to normalcy on thiamine supplementation. We recommend thiamine therapy for infants with unexplained congestive cardiac failure or acute respiratory failure from precarious socio-economic background since it is life-saving in many instances.

[Oriental and European medicine in the local historian Masamichi Teraishi's book].

There was a prevalence of beriberi in the Meiji era. We found articles about Souhaku ASADA, Syouan TOUDA and Jun MATSUMOTO in the Toukayogeidan, written by Masamichi TERAISHI. The book tells about the treatment and its side effects. This book reveals that Doumei YAKAZU's investigation was correct. It is of interest to learn from this book how one patient consulted doctors in the Meiji era and talked about the treatment and side effects of the doctors.

Jiao Qi disease in medieval China.

The disease, Jiao Qi, thought by modern scholars to be beriberi, was prevalent in medieval China. This article reviews the research literature, both ancient and modern, concerning the history of Jiao Qi, and evaluates the research methods used by modern scholars writing about Jiao Qi. The article emphasizes the importance of considering not only the symptoms of the disease but also its epidemiological features, including environmental aspects, and the therapeutic measures employed to treat it. The current author concludes that there are problems with the historical materials, such as inconsistency and bias, and that limitations are inherent in the approaches used to identify an ancient disease according to modern medical criteria.

Outbreak of beri-beri in a prison in West Africa.

The International Committee of the Red Cross investigated an outbreak of beri-beri in a prison in West Africa. Twenty-five prisoners out of a total of 1020 died over a period of 11 weeks--exceeding the crude mortality rate of 1/10,000/day, a threshold for serious concern. Two hundred and eleven prisoners had clinical signs of beri-beri. An immediate response to treatment with thiamine was seen and no further deaths occurred. The triad of a positive squatting test, oedema and a diet consisting exclusively of white rice should lead to the diagnosis of beri-beri. The disease is more common than generally assumed, also in Africa and especially in prisons.

[Shoshin beriberi: myth or reality?]. / Le Shoshin béribéri: mythe ou réalité?

Shoshin is a fulminating form of cardiac beriberi developing in a few hours in a young alcoholic. Without specific treatment it evulers, toward death by cardiogenic shock and metabolic acidosis. Treatment by thiamine and alkalinisation permits a spectacular and fast recovery.

[Cardiac beriberi]. / Béribéri cardiaque.

Interest has recently risen regarding thiamine deficiency (beriberi). In industrial countries, not only alcoholics, but also deprived people with malnutrition, elderly patients and patients with AIDS are at risk of thiamine deficiency. Moreover, long-term furosemide use may be associated with thiamine deficiency through urinary loss, contributing to cardiac insufficiency in patients with congestive heart failure. Cardiovascular (wet beriberi) manifestations of thiamine deficiency are characterized by peripheral vasodilatation with increased cardiac output, myocardial lesion, sodium and water retention and biventricular myocardial failure. Treatment consists of thiamine administration with rapid clinical improvement after supplementation.

[Right heart failure caused by thiamine deficiency (cardiac beriberi)]. / Insuffisance cardiaque droite due à un déficit en thiamine (béribéri cardiaque).

BACKGROUND: Vitamin B1 deficiency (beriberi) is very uncommon in France. It leads to high output cardiac failure totally different from the situation observed in alcoholic patients. We report a typical case of cardiac beriberi. CASE REPORT: The patient was referred for dyspnea with high output cardiac failure. Echocardiography evidenced severe pulmonary hypertension and high cardiac output. The more common causes of heart failure were ruled out. The dietary habits of the patient (suggested beriberi which was confirmed by the low serum thiamin and therapeutic test with vitamin B1. DISCUSSION: High output cardiac failure should suggest possible Shoshin beriberi, particularly in subjects with imported dietary habits living in a precarious socioeconomic situation.

[Shoshin beriberi. A rapidly curable hemodynamic disaster]. / Le shoshin béribéri. Une catastrophe hémodynamique rapidement curable.

Shoshin beriberi, a uncommon cause of hemodynamic instability (or cardiac shock) and acute heart failure may go undiagnosed in Western countries where prevalence is low. This severe heart condition due to thiamine deficiency is rapidly fatal unless specific therapy is given. The most frequent cause in France is chronic alcoholism. There are no specific signs on the electrocardiogram in a patient with acute heart failure due to shoshin beriberi. The chest x-ray simply shows signs of pulmonary edema and heart enlargement. The echocardiography may be normal although hypokinesia and/or dilatation of the left ventricle (due to thiamine deficiency) are sometimes noted. Diagnosis is suspected in patients with chronic alcoholism who develop acute global heart failure with lactic acidosis. Right catheterism confirms low cardiac output resulting from arteriovenous shunts. Blood tests (red cell transacetolase activity, measurement of effect of pyrophosphatase, plasma and intraerythrocyte thiamine) confirm the diagnosis a posteriori. Clinical improvement is rapid after intravenous infusion of vitamin B1. The danger of fulminant beriberi heart failure in undernourished alcoholic patients emphasizes the need for regular prescription of vitamin B1.

A case of beriberi accompanying short bowel.

A case of beriberi based on short bowel is reported. A 4 year old girl, who underwent a resection of the intestine when a neonate and has had a short bowel, manifested beriberi despite eating normal Japanese food. Considering that she has had no dislikes of foods, and her family members, who have eaten meals similar to hers have been healthy, beriberi is considered in this case to have developed mainly through hypoabsorption of vitamin B1. This patient has responded well to vitamin B1 therapy with a relatively slow recovery in neural functions. Although it has not been confirmed whether short bowel syndrome is prone to be accompanied by beriberi, special attention should be given to vitamin B1 in short bowel syndrome patients.

Beri-beri: age-gender bias in The Gambia.

This paper investigates a suspected outbreak of beri-beri which occurred in The Gambia in 1988. The outbreak was spatially specific and had a distinct age and gender bias, with young men aged 15-49 being the group mainly affected. The age and gender bias of the outbreak is particularly interesting as women and children in the developing world are usually more susceptable to conditions associated with malnourishment, than men. The authors investigate the peculiar nature of the outbreak and find that they cannot easily explain the apparent age and gender bias. The authors note that at the time of the outbreak medical treatment took precedence over socio-economic investigations. This makes it difficult to ascertain why certain age and gender groups were affected and thus to target them for future preventative health education programmes. This case study therefore concludes, that where possible, medical investigations must be combined with socio-economic studies if future outbreaks of this kind are to be avoided.

Ethanol-associated metabolic disorders.

The ingestion of alcohol, both intermittently and habitually, results in significant patient morbidity and mortality and stresses an already compromised socioeconomic system. Ethanol can interact with normal metabolic pathways to produce a variety of life-threatening abnormalities, particularly in those with underlying poor nutritional status, as is found in many alcohol users. Once identified, the metabolic derangements associated with alcohol use generally respond well to therapeutic interventions. The recurrence rate, however, is extremely high. Any attempt at long-term solutions must involve extensive rehabilitative services. Current research is directed largely toward improving survival from alcohol-related illnesses such as cirrhosis and cardiac disease. We must focus our efforts on the social implications of alcoholism, providing medical support, counseling, and rehabilitation to affected persons. Since alcohol-related problems present most frequently to the Emergency Department, it is appropriate that the emergency physician take the first step in attacking this disease, a step that may be as simple as a referral for detoxification or social services support.

[Congestive heart failure due to chronic alcoholism (author's transl)]. / L'insuffisance cardiaque congestive due à l'alcoolisme chronique.

In rare instances, chronic alcoholism leads to the congestive heart failure which is characteristic of alcoholic beriberi with edema. The affected patients is usually a young man with longstanding alcoholic intoxication and often with neurologic features. Onset is often sudden, with dyspnea on exertion, orthopnea, and palpitations. The clinical sings of cardiac failure are unequivocal. Roentgenography shows cardiomegaly mainly due to enlargement of the right cavities and of the pulmonary artery. ECG shows sinus tachycardia and abnormal repolarisation in the precordium. The cardiac output and the cardiac index are increased, as well as the coronary output. Pyruvic acid levels exceed 15 mg/l, the provoked hyperpyruvicemia test is abnormal, thiamine levels are low, and the tryptophane test is normal. The course is variable. Cardiac beriberi progresses by exacerbation and remissions. Prognosis is poor, with a risk of sudden death. However, with adequate treatment combining rest, a low sodium diet, alcohol withdrawal, diuretics, and vitamin B1 (IV) recovery occurs. Our two observations clearly fit this description.