Atypical presentation of a forgotten disease: refractory hypotension in beriberi.

BACKGROUND/OBJECTIVES: Thiamine deficiency is a treatable disease with an excellent prognosis. However, it is often unrecognized because of the diversity of its clinical presentations. SUBJECTS/METHODS: Herein, we report two atypical cases of nonalcoholic thiamine deficiency that presented with refractory hypotension in the absence of lactic acidosis. RESULTS: Case 1 developed recurrent hypotension, right-sided heart failure, and a classic triad of Wernicke's encephalopathy (WE) after gastrointestinal surgery. Case 2 had decreased dietary intake and diuretic abuse, and had multiple episodes of syncope prior to present admission with refractory hypotension and mental status changes. The diagnosis of both cases was confirmed by undetectable pretreatment serum thiamine and dramatic improvement with thiamine replacement. CONCLUSIONS: In this report, we highlight refractory hypotension as a complication of, not only cardiovascular, but also neurologic beriberi. Moreover, thiamine replacement should be considered without delay in hypotensive patients with signs of WE and/or risk factors for beriberi.

Cranial Ultrasonography in Infantile Encephalitic Beriberi: A Useful First-Line Imaging Tool for Screening and Diagnosis in Suspected Cases.

BACKGROUND AND PURPOSE: Brain imaging is central to the diagnosis of infantile encephalitic beriberi. Because cranial sonography findings have not been described in infantile encephalitic beriberi, our aim was to investigate its role in the diagnosis of this condition. MATERIALS AND METHODS: We performed a retrospective review of head sonography of infants (admitted between November 1, 2014, and March 31, 2015) who presented with encephalopathy. Cranial ultrasonography scans were studied for the alteration of echogenicity of the basal ganglia. RESULTS: Of the 145 consecutive infants who presented with encephalopathy, 58 had thiamine-responsive encephalopathy (infantile encephalitic beriberi) and 87 had encephalopathy due to other causes. Forty-eight of 145 infants with encephalopathy showed hyperechoic basal ganglia. A hyperechoic appearance of the basal ganglia on cranial ultrasonography was found to have a sensitivity of 71% (41/58) and a specificity of 92% (80/87) in diagnosing infantile encephalitic beriberi. The sensitivity of cranial sonography increased with age. It was a maximum of 93% (14/15) in the 5 months and older age group. Specificity was a maximum of 100% (18/18) in infants older than 5 months of age. Sensitivity was maximum in Wernicke encephalopathy at 90% (18/20) and least in the acidotic form at 43% (10/23). Follow-up showed gradual normalization of the hyperechoic appearance of the basal ganglia during 8 weeks in 26/41 (63%), with mild atrophy of the basal ganglia in 6/41 (15%) CONCLUSIONS: Hyperechogenicity of the basal ganglia on cranial ultrasonography is a sensitive finding for the diagnosis of infantile encephalitic beriberi in infants who present with Wernicke encephalopathy.

Outbreak of beriberi among African Union troops in Mogadishu, Somalia.

CONTEXT AND OBJECTIVES: In July 2009, WHO and partners were notified of a large outbreak of unknown illness, including deaths, among African Union (AU) soldiers in Mogadishu. Illnesses were characterized by peripheral edema, dyspnea, palpitations, and fever. Our objectives were to determine the cause of the outbreak, and to design and recommend control strategies. DESIGN, SETTING, AND PARTICIPANTS: The illness was defined as acute onset of lower limb edema, with dyspnea, chest pain, palpitations, nausea, vomiting, abdominal pain, or headache. Investigations in Nairobi and Mogadishu included clinical, epidemiologic, environmental, and laboratory studies. A case-control study was performed to identify risk factors for illness. RESULTS: From April 26, 2009 to May 1, 2010, 241 AU soldiers had lower limb edema and at least one additional symptom; four patients died. At least 52 soldiers were airlifted to hospitals in Kenya and Uganda. Four of 31 hospitalized patients in Kenya had right-sided heart failure with pulmonary hypertension. Initial laboratory investigations did not reveal hematologic, metabolic, infectious or toxicological abnormalities. Illness was associated with exclusive consumption of food provided to troops (not eating locally acquired foods) and a high level of insecurity (e.g., being exposed to enemy fire on a daily basis). Because the syndrome was clinically compatible with wet beriberi, thiamine was administered to ill soldiers, resulting in rapid and dramatic resolution. Blood samples taken from 16 cases prior to treatment showed increased levels of erythrocyte transketolase activation coefficient, consistent with thiamine deficiency. With mass thiamine supplementation for healthy troops, the number of subsequent beriberi cases decreased with no further deaths reported. CONCLUSIONS: An outbreak of wet beriberi caused by thiamine deficiency due to restricted diet occurred among soldiers in a modern, well-equipped army. Vigilance to ensure adequate micronutrient intake must be a priority in populations completely dependent upon nutritional support from external sources.

Cardiac beriberi: morphological findings in two fatal cases.

Cardiovascular beriberi is categorized into two main groups, according to its cause: alcoholic and non-alcoholic (dietary). Cardiovascular beriberi can also be divided into a fulminant form (Shoshin beriberi) and a chronic form. Shoshin beriberi is characterized by hypotension, tachycardia, and lactic acidosis and is mainly encountered in non-alcoholic patients in Asian countries, although it has also been seen in alcoholics in Western countries. Due to the complex clinical presentation and to the lack of diagnostic tests, thiamine deficiency is still being missed, especially among non-alcoholics patients. We present two fatal cases of non - alcohol associated cardiac beriberi. An acute myocardial infarction was observed in one case; extensive colliquative myocytolisis (grade 2) was described in the second case respectively. Morphologically, myocardial necrosis and colliquative myocytolysis are the histologic hallmarks of this acute, rare clinical entity. An increase in apoptotic myocytes was demonstrated probably sustaining the cardiogenic shock.

Outbreak of beriberi in an Indian population of the upper Amazon region, Roraima State, Brazil, 2008.

Edema, parasthesias, and paresis affected 10 residents of an Indian community in Roraima state; three died. Mining with mercury occurs locally; caxirí, a traditional alcoholic drink, is consumed daily. We conducted a 1:2 unmatched case-control study; a case was an Indian from Uiramutã county (population of 9,127) who presented ≥ 1 of lower extremity edema, paresthesias, paresis, or weakness. Controls were asymptomatic Indians randomly selected from the population. We identified 90 cases (prevalence of 1%) and 180 controls; all were enrolled. Among cases, 79% were male, and the median age was 31 years. Ethnicity was Macuxí, and 49% had income. Cases had lower extremity edema (85%), upper extremity paresthesias (84%), and lower extremity weakness and pain (78%). Risk factors were male sex (odds ratio [OR] = 6.8; P < 0.001), age 31-40 years (OR = 5.63; P < 0.001), and consumption of caxirí (OR = 2.7; P < 0.003). Mercury exposure was not a risk. Thiamine therapy produced complete rapid clinical recovery in all cases, confirming the diagnosis of beriberi. We recommend surveillance, thiamine supplementation, and nutritional intervention.

Severe anasarca due to beriberi heart disease and diabetic nephropathy.

A 40-year-old man was transferred to our hospital because of severe anasarca. He was a heavy drinker for more than 20 years, and diagnosed with diabetes mellitus 8 years earlier and treated with retinal photocoagulation 8 months earlier. He reported loss of appetite after divorce 10 months prior to admission. On admission, he presented with systemic edema and dyspnea. Chest radiography showed massive pleural effusion and cardiomegaly. Serum total protein was 5.6 g/dl, albumin 2.6 g/dl, and urinary protein excretion was 5.3 g/day. Glucose tolerance test showed normal pattern. Ultrafiltration and continuous hemofiltration resulted in loss of 40 kg body weight in 5 days. Echocardiography revealed high-output heart failure and blood tests showed low serum thiamine level of 12 ng/ml (normal, >28 ng/ml). Accordingly, the diagnosis was established as beriberi heart disease complicated with nephrotic syndrome. Treatment with 50 mg/day thiamine intravenously and 80 mg/day furosemide resulted in increase in urine output, decrease in cardiac output, resolution of pulmonary effusion, and about 70 kg body weight loss. Percutaneous renal biopsy showed nodular glomerulosclerosis, mesangial matrix expansion, and thickening of glomerular basement membrane (GBM). Immunofluorescence study showed no glomerular deposition of immunoglobulin or complement. Electron microscopy showed GBM thickening and mesangial matrix deposition without electron-dense deposits or fibrils. These findings were compatible with diabetic glomerulosclerosis. In this patient, extreme malnutrition altered glucose tolerance but, on the other hand, nephrotic syndrome associated with diabetic nephropathy made the diagnosis of beriberi heart disease difficult.

Histopathological changes of biopsied myocardium in Shoshin beriberi.

Cardiovascular beriberi is caused by thiamine deficiency and usually arises for one of two reasons: alcoholism or diet. Shoshin beriberi is a fulminant form of cardiac beriberi. We investigated the histopathological features of biopsied myocardial tissue samples from two patients with Shoshin beriberi (one patient with nonalcoholic beriberi and another patient with alcoholic beriberi). Interstitial fibrosis and a variation in size of the myocardial fibers were the main findings in the sample from these patients after thiamine treatment. These findings are persistent histopathological features in the myocardium of patients with Shoshin beriberi after thiamine treatment.

Occidental beriberi and sudden death.

Beriberi, thiamine deficiency, is classified as "dry" (neurologic) or "wet" (cardiovascular) and may be mixed. Deficiency of this vitamin may be nutritional or secondary to alcohol intoxication. In Western societies (occidental beriberi), the disorder is more commonly observed in long-term alcohol abusers. However, it may go undiagnosed because it is relatively uncommon. In some cases (acute cardiovascular beriberi), early treatment with parenteral vitamin B1 is required to prevent the development of low-output state and sudden death. We report a case of occidental beriberi with fatal outcome despite therapy.

Alcohol and the heart.

ALCOHOLISM IN GENERAL: Alcoholism is one of the major health problems in the world. Alcohol consumption has an impact on different body systems like the central nervous system, the gastrointestinal tract, the hematopoetic organs, and the cardiovascular system. Alcohol interferes with other medications, and drinking can exacerbate a variety of medical illnesses. IMPACT ON THE HEART: In the heart, alcohol and its metabolite acetaldehyde confer a toxic effect on mitochondria as well as on the sarcoplasmatic reticulum, which is dependent on both the mean daily consumption and the duration of alcohol intake. A wide range of toxic effects of alcohol in distinct individuals can be observed and modest doses of alcohol can exert beneficial effects on the cardiovascular system probably by an increase in high density lipoprotein cholesterol (HDL) or changes in blood clotting mechanisms. Detrimental effects of alcohol on the heart comprise a decrease in myocardial contractility, hypertension, atrial and ventricular arrhythmias, and secondary non-ischemic dilated cardiomyopathy. After consuming large quantities of alcohol over years, alcoholic cardiomyopathy may develop, which presents with dilation and impaired contractility of the left or both ventricles. Endomyocardial biopsies of patients with alcoholic cardiomyopathy reveal in up to 30% of all cases myocarditis with lymphocytic infiltrates. TREATMENT: Abstinence after development of milder heart failure can stop progression or even reverse symptoms in some cases, otherwise severe heart failure ensues leading to a poor prognosis. Except abstinence, treatment of alcoholic cardiomyopathy is based on the regimen of therapy for heart failure to reduce the size of the dilated heart and to mitigate the symptoms of heart failure.

Neuropathology of thiamine deficiency disorders.

The Wernicke-Korsakoff syndrome (WKS) is the most frequently encountered manifestation of thiamine deficiency in Western society. It is commonly seen in alcoholic patients, but may also occur in patients with impaired nutrition from other causes, such as those with gastrointestinal disease or AIDS. The pathology is restricted to the central nervous system and is characterised by neuronal loss, gliosis and vascular damage in regions surrounding the third and fourth ventricles and the cerebral aqueduct. In addition to WKS, thiamine deficiency may also result in beriberi, a cardiac and peripheral nervous system disease, and it has been implicated in the pathogenesis of cerebellar degeneration and peripheral neuropathy. Thus thiamine deficiency results in significant nervous system pathology and vigilance should be maintained in the diagnosis and treatment of this readily preventable cause of disease.

Epidemic neuropathy in Cuba: morphological characterization of peripheral nerve lesions in sural nerve biopsies.

More than 50,000 patients were affected in Cuba during an epidemic outbreak of peripheral neuropathy from January 1992 until September 1993. The disease presented as either a retrobulbar optic neuropathy, a predominantly sensory peripheral neuropathy, a dorsolateral myeloneuropathy, or as mixed forms. The morphological findings in sural nerve biopsies from 34 patients with various forms of the disease are presented here. Frozen, paraffin and semi-thin sections were prepared for light and electron microscopy, immunohistochemistry and morphometric analysis. Every case presented morphological alterations ranging from mild axonal dystrophy (9 cases, or 27%) to moderate and severe axonal damage (25 cases, or 73%). In 6 cases (18%), axonal damage was accompanied by perineural fibrosis and vascular abnormalities. Axonal regeneration was noted in 8 cases (23%) and remyelination in 9 (26%). Morphometric analysis showed a predominant loss of myelinated fibers in 92% of the patients. Quantification of myelinated fiber loss in 11 patients revealed a remarkable decrease in large caliber fibers. Scarce mononuclear cells were observed in 17 cases. No virus-like elements were seen. The morphological features found in this study indicate that, regardless of the clinical presentation, peripheral nerve lesions of the epidemic neuropathy in Cuba correspond to an axonal neuropathy. These lesions are compatible with nutritional, toxic, or metabolic etiologies. An inflammatory etiology would be unusual with these lesions.

[Scurvy with simultaneous wet beriberi in 2 patients]. / Skjørbuk med samtidig våt beriberi hos to pasienter.

Two patients developed the clinical picture of scorbut and simultaneous wet beriberi. The diagnosis was confirmed by low concentrations of ascorbic acid and thiamin and thiaminfosfate-ester in serum and in whole blood. Treatment with ascorbic acid led to a rapid reversal of scorbutic changes, but the changes due to the wet beri-beri persisted. Thiamine supplementation was given only perorally in the first patient, and a severe catabolic state in the other delayed the improvement in the beriberi. Direct determination of ascorbic acid and thiamin and thiaminfosfate-esters in serum and in whole blood may confirm the diagnosis of vitamin deficiencies.

Shoshin beriberi: an underdiagnosed condition?

Shoshin beriberi, a fulminant form of heart failure due to thiamine deficiency has a different presentation to the classical form of beriberi heart failure. It is characterized by a cold periphery, low blood pressure, renal shutdown and a severe metabolic acidosis. The true incidence is unknown. Two patients were seen within a few months in a general hospital and in both dietary deficiency of thiamine was a major factor.

The haemodynamic, histopathological and hormonal features of alcoholic cardiac beriberi.

Five cases of cardiac beriberi occurring in chronic alcoholics are described. The clinical diagnosis was based on the presence of biventricular failure, low dietary intake of thiamine and the therapeutic response to oral thiamine. Complicating cardiac disease was excluded by haemodynamic studies, left ventriculography; coronary angiography and endomyocardial biopsy. Haemodynamic measurements including quantitative left ventriculography are reported. They indicate that left ventricular function is depressed despite elevated cardiac output. Biopsy material was studied by light and electron microscopy. No lesion specific to beriberi was detected by either technique although the biopsies were quantitatively abnormal. The histological changes resemble those in early reports based on necropsy material, and consist of vacuolation and intercellular oedema in the early stages with myofibre hypertrophy, fibrosis and cellular infiltration in the chronic cases. The transketolase test and response to intravenous thiamine during catheter studies are valuable diagnostic tests. Plasma renin, angiotensin II and aldosterone levels were lower than in patients with low output heart failure. The incidence of cardiac beriberi appears to be greater than is generally realized.

Chronic cardiac beriberi in a former prisoner of the Japanese.

1. A case is described of an Englishman who suffered severe 'wet beriberi' whilst a prisoner of war (POW) of the Japanese in World War II. 2. Following release he developed a congestive cardiomyopathy which increased in severity until his death 31 years after repatriation. 3. Autopsy findings were consistent with chronic cardiac damage due to beriberi.