Beriberi
Disease Details
Family Health Simplified
- Description
- Beriberi is a disease caused by a deficiency of thiamine (vitamin B1), leading to issues with the nervous and cardiovascular systems.
- Type
- Beriberi is a disease caused by a deficiency of thiamine (vitamin B1). It is not a genetic disorder and therefore has no type of genetic transmission. Beriberi can manifest in two primary forms: wet beriberi, which affects the cardiovascular system, and dry beriberi, which affects the nervous system.
- Signs And Symptoms
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Symptoms of beriberi include weight loss, emotional disturbances, impaired sensory perception, weakness and pain in the limbs, and periods of irregular heart rate. Edema (swelling of bodily tissues) is common. It may increase the amount of lactic acid and pyruvic acid within the blood. In advanced cases, the disease may cause high-output cardiac failure and death.
Symptoms may occur concurrently with those of Wernicke's encephalopathy, a primarily neurological thiamine deficiency-related condition.
Beriberi is divided into four categories. The first three are historical and the fourth, gastrointestinal beriberi, was recognized in 2004:
Dry beriberi especially affects the peripheral nervous system.
Wet beriberi especially affects the cardiovascular system and other bodily systems.
Infantile beriberi affects the babies of malnourished mothers.
Gastrointestinal beriberi affects the digestive system and other bodily systems. - Prognosis
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Beriberi is a condition caused by a deficiency of thiamine (vitamin B1). The prognosis for beriberi depends on several factors, including the severity and duration of the deficiency, as well as how quickly treatment is initiated.
With prompt diagnosis and appropriate thiamine supplementation, the prognosis is generally good, and many symptoms can improve rapidly, often within days or weeks. Chronic cases or those that have led to significant complications, such as heart damage (in wet beriberi) or neurological impairment (in dry beriberi), may have a more guarded prognosis. In such instances, recovery may be partial, and some individuals could experience long-term effects.
Overall, early intervention significantly improves outcomes. - Onset
- Beriberi is a disease caused by a deficiency of thiamine (vitamin B1). The onset of beriberi can be subacute to chronic and typically develops over weeks to months, depending on the severity and duration of the thiamine deficiency.
- Prevalence
- The prevalence of beriberi is relatively low in developed countries due to the wide availability of thiamine (vitamin B1)-fortified foods. However, it remains more common in regions with poor nutrition, particularly in parts of Southeast Asia, sub-Saharan Africa, and South America, where diets may be heavily reliant on white rice or other thiamine-deficient food sources. Additionally, it can be seen in individuals with chronic alcoholism, as alcohol impairs thiamine absorption and utilization.
- Epidemiology
- Beriberi is a recurrent nutritional disease in detention houses, even in this century. In 1999, an outbreak of beriberi occurred in a detention center in Taiwan. High rates of illness and death from beriberi in overcrowded Haitian jails in 2007 were traced to the traditional practice of washing rice before cooking; this removed a nutritious coating which had been applied to the rice after processing (enriched white rice). In the Ivory Coast, among a group of prisoners with heavy punishment, 64% were affected by beriberi. Before beginning treatment, prisoners exhibited symptoms of dry or wet beriberi with neurological signs (tingling: 41%), cardiovascular signs (dyspnoea: 42%, thoracic pain: 35%), and edemas of the lower limbs (51%). With treatment, the rate of healing was about 97%.Populations under extreme stress may be at higher risk for beriberi. Displaced populations, such as refugees from war, are susceptible to micronutritional deficiency, including beriberi. The severe nutritional deprivation caused by famine also can cause beriberis, although symptoms may be overlooked in clinical assessment or masked by other famine-related problems. An extreme weight-loss diet can, rarely, induce a famine-like state and the accompanying beriberi.Workers on Chinese squid ships are at elevated risk of beriberi due to the simple carbohydrate-rich diet they are fed and the long period of time between shoring. Between 2013 and 2021, 15 workers on 14 ships have died with symptoms of beriberi.
- Intractability
- Beriberi, which results from a deficiency of thiamine (vitamin B1), is generally not considered intractable. It can be effectively treated with thiamine supplementation, dietary changes to include thiamine-rich foods, and addressing any underlying causes of the deficiency. Prompt treatment usually leads to a full recovery, although prolonged deficiency can cause permanent damage, particularly to the nervous system or heart.
- Disease Severity
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Beriberi is a disease caused by a deficiency of thiamine (vitamin B1). It can vary in severity based on the type and duration of the deficiency. There are two primary forms:
1. **Dry Beriberi**: Affects the nervous system, leading to symptoms like peripheral neuropathy, muscle weakness, and impaired reflexes.
2. **Wet Beriberi**: Affects the cardiovascular system, causing symptoms like shortness of breath, rapid heart rate, swollen legs, and congestive heart failure.
The severity can range from mild to life-threatening if left untreated. Early diagnosis and treatment with thiamine supplementation usually lead to a full recovery. - Healthcare Professionals
- Disease Ontology ID - DOID:13725
- Pathophysiology
- Thiamine in the human body has a half-life of 17 days and is quickly exhausted, particularly when metabolic demands exceed intake. A derivative of thiamine, thiamine pyrophosphate (TPP), is a cofactor involved in the citric acid cycle, as well as connecting the breakdown of sugars with the citric acid cycle. The citric acid cycle is a central metabolic pathway involved in the regulation of carbohydrate, lipid, and amino acid metabolism, and its disruption due to thiamine deficiency inhibits the production of many molecules including the neurotransmitters glutamic acid and GABA. Additionally, thiamine may also be directly involved in neuromodulation.
- Carrier Status
- Beriberi is not a condition that involves carrier status, as it is not a genetic disorder. Instead, beriberi is caused by a deficiency of thiamine (vitamin B1) and is related to nutritional deficiencies rather than hereditary transmission.
- Mechanism
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Beriberi is a disease primarily caused by a deficiency in thiamine (vitamin B1). Thiamine is essential for glucose metabolism and plays a critical role in the function of the nervous system, muscles, and heart. The disease exists in two major forms: wet beriberi, which affects the cardiovascular system, and dry beriberi, which affects the nervous system.
**Mechanism:**
1. **Thiamine Deficiency**: The root cause of beriberi is an insufficient intake or absorption of thiamine. This vitamin is a crucial cofactor for several enzymes involved in energy metabolism.
2. **Impaired Glucose Metabolism**: Thiamine is necessary for the proper functioning of enzymes such as pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase in the Krebs cycle. A deficiency leads to impaired glucose metabolism and a resultant drop in adenosine triphosphate (ATP) production.
3. **Energy Deficit**: Reduced ATP levels can particularly impact high-energy-requiring tissues, such as the heart, nerves, and muscles.
**Molecular Mechanisms:**
1. **Enzymatic Dysfunction**:
- **Pyruvate Dehydrogenase Complex**: Thiamine pyrophosphate (TPP), the active form of thiamine, is an essential cofactor for pyruvate dehydrogenase, which converts pyruvate to acetyl-CoA. A deficiency hampers this conversion, causing an accumulation of pyruvate and lactate, leading to lactic acidosis.
- **Alpha-Ketoglutarate Dehydrogenase**: TPP is also required for this enzyme in the citric acid cycle, affecting acetyl-CoA entry into the cycle and reducing energy production.
2. **Pentose Phosphate Pathway**: Thiamine is a cofactor for transketolase, an enzyme in the pentose phosphate pathway. This pathway is critical for producing ribose-5-phosphate and NADPH, essential for nucleotide synthesis and oxidative stress management. A deficiency can compromise cellular functions dependent on these molecules.
3. **Neurological Impact**: In the nervous system, reduced ATP levels impair the function of neurons, leading to demyelination and axonal degeneration. These disruptions cause symptoms such as peripheral neuropathy, tingling, and loss of muscle function.
4. **Cardiovascular Impact**: In wet beriberi, decreased ATP availability affects myocardial and peripheral vascular function. The heart becomes dilated and weakened (cardiomyopathy), and peripheral blood vessels dilate, causing fluid retention and edema.
Overall, the molecular mechanisms of beriberi underscore the critical role of thiamine in maintaining metabolic and cellular functions. - Treatment
- Many people with beriberi can be treated with thiamine alone. Given thiamine intravenously (and later orally), rapid and dramatic recovery occurs, generally within 24 hours.Improvements of peripheral neuropathy may require several months of thiamine treatment.
- Compassionate Use Treatment
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Beriberi is primarily caused by a deficiency of thiamine (vitamin B1). As such, treatment for beriberi typically involves thiamine supplementation, which can be administered orally or by injection. Thiamine replacement is considered the standard treatment rather than compassionate use or experimental.
However, in specific and severe cases, especially where there is associated cardiac or neurological damage, additional treatments and supportive care may be necessary. There are no widely recognized off-label or experimental treatments for beriberi that surpass the efficacy of thiamine supplementation. Prompt medical intervention is essential to prevent irreversible damage and to manage symptoms effectively. If you are exploring advanced or experimental treatments, consulting a healthcare professional for the latest peer-reviewed studies and clinical trials would be advisable. - Lifestyle Recommendations
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**Lifestyle Recommendations for Beriberi:**
1. **Dietary Changes:**
- **Increase Thiamine Intake:** Consume foods rich in thiamine (Vitamin B1) such as whole grains, legumes, nuts, seeds, pork, and fortified foods.
- **Limit Alcohol Consumption:** Alcohol interferes with thiamine absorption, so reducing intake is crucial.
2. **Regular Monitoring:**
- **Regular Check-ups:** Monitor vitamin levels, especially if you are at risk or have underlying conditions affecting nutrient absorption.
3. **Nutrient Absorption:**
- **Proper Cooking Methods:** Avoid overcooking or using methods that result in significant nutrient loss.
- **Balanced Diet:** Maintain a balanced diet that includes a variety of food groups to ensure adequate nutrient intake.
4. **Health Management:**
- **Manage Chronic Conditions:** Pay attention to conditions that affect nutrient absorption, like gastrointestinal disorders, and follow medical advice to manage them effectively.
5. **Supplementation:**
- **Thiamine Supplements:** In consultation with a healthcare provider, use thiamine supplements if dietary intake is insufficient or if diagnosed with beriberi already.
6. **Education and Awareness:**
- **Stay Informed:** Educate yourself about the importance of thiamine and recognize early symptoms of deficiency.
Following these recommendations can help prevent and manage beriberi effectively. - Medication
- There is no specific medication for beriberi; the primary treatment involves thiamine (vitamin B1) supplementation. This can be administered orally or via injection, depending on the severity of the condition. Additionally, a well-balanced diet rich in thiamine is essential for recovery and prevention of the disease.
- Repurposable Drugs
- For beriberi, which is caused by a deficiency of thiamine (vitamin B1), there currently aren't specific drugs typically repurposed for treatment. The standard treatment involves thiamine supplementation, either orally or via injection, to replenish the body's thiamine levels. Prompt medical attention and dietary changes are crucial for recovery.
- Metabolites
- Beriberi is primarily caused by a deficiency in thiamine (vitamin B1). The primary metabolites involved in this condition include decreased levels of thiamine pyrophosphate (TPP), an active form of thiamine. Deficiency in thiamine disrupts key metabolic pathways such as the Krebs cycle and the pentose phosphate pathway, leading to an accumulation of pyruvate and lactate. This metabolic imbalance manifests in either dry beriberi, affecting the nervous system, or wet beriberi, impacting the cardiovascular system.
- Nutraceuticals
- Beriberi is a disease caused by a deficiency of thiamine (vitamin B1). Supplementation with thiamine is the primary treatment. Nutraceutical options include thiamine supplements in various forms, such as thiamine hydrochloride or thiamine mononitrate, which can help restore normal levels and alleviate symptoms. Some fortified foods might also contribute to improving thiamine intake.
- Peptides
- Beriberi is caused by a deficiency of thiamine (vitamin B1), not peptides. It affects the cardiovascular and nervous systems, leading to symptoms such as weakness, pain, irregular heart rate, and edema. There is no known connection between peptides and the treatment or cause of beriberi.