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Favism

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Description: Favism is a disorder caused by a deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD), leading to the destruction of red blood cells in response to certain triggers like fava bean consumption.
Type: Favism is a metabolic disorder. It is inherited in an X-linked recessive pattern.
Signs And Symptoms: Most individuals with G6PD deficiency are asymptomatic.Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient red blood cells coexisting with unaffected red blood cells. A female with one affected X chromosome will show the deficiency in approximately half of her red blood cells. However, in some cases, including double X-deficiency, the ratio can be much more than half, making the individual almost as sensitive as males.Red blood cell breakdown (also known as hemolysis) in G6PD deficiency can manifest in a number of ways, including the following:
Prolonged neonatal jaundice, possibly leading to kernicterus (arguably the most serious complication of G6PD deficiency)
Hemolytic crises in response to:
Illness (especially infections)
Certain drugs (see below)
Certain foods, most notably broad beans, from which the word favism derives
Certain chemicals
Diabetic ketoacidosis
Hemoglobinuria (red or brown urine)
Very severe crisis can cause acute kidney injuryFavism is a hemolytic response to the consumption of fava beans, also known as broad beans. Though all individuals with favism show G6PD deficiency, not all individuals with G6PD deficiency show favism. The condition is known to be more prevalent in infants and children, and G6PD genetic variant can influence chemical sensitivity. Other than this, the specifics of the chemical relationship between favism and G6PD are not well understood.
Prognosis: G6PD-deficient individuals do not appear to acquire any illnesses more frequently than other people, and may have less risk than other people for acquiring ischemic heart disease and cerebrovascular disease.
However, a recent study revealed that G6PD deficiency increases the cardiovascular risk up to 70%. The risk conferred by G6PD deficiency is moderate compared with the impact of primary cardiovascular risk factors. Besides, a published review hypothesized that G6PD deficiency could reduce the antiplatelet efficacy of clopidogrel (clopidogrel resistance).
Onset: Favism has a rapid onset, typically occurring within hours after ingesting fava beans or being exposed to fava plant pollen.
Prevalence: Favism is a condition linked to a genetic deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD). It predominantly affects males of certain Mediterranean, African, and Asian populations. Prevalence rates vary but can be as high as 20-30% in some regions. The deficiency is usually less common in other populations. No associated information is recorded for "nan" in the context of favism.
Epidemiology: G6PD deficiency is the second most common human enzyme defect after ALDH2 deficiency, being present in more than 400 million people worldwide. G6PD deficiency resulted in 4,100 deaths in 2013 and 3,400 deaths in 1990. The Mediterranean Basin is where favism is most common, especially among Mizrahi Jews, Sardinians, Cypriots, Greeks, Egyptians, and some African populations, including those who have these ancestries. Favism has also been documented outside of the Mediterranean basin, in other Middle Eastern and East Asian nations like Iraq, Iran, Bulgaria and China. Sardinia has the highest reported frequency of favism, with five instances per every 1,000 people.A side effect of this disease is that it confers protection against malaria, in particular the form of malaria caused by Plasmodium falciparum, the most deadly form of malaria. A similar relationship exists between malaria and sickle-cell disease. One theory to explain this is that cells infected with the Plasmodium parasite are cleared more rapidly by the spleen. This phenomenon might give G6PD deficiency carriers an evolutionary advantage by increasing their fitness in malarial endemic environments.
In vitro studies have shown that the Plasmodium falciparum is very sensitive to oxidative damage. This is the basis for another theory, that is that the genetic defect confers resistance due to the fact that the G6PD-deficient host has a higher level of oxidative agents that, while generally tolerable by the host, are deadly to the parasite.
Intractability: Favism, which is a hemolytic response to the consumption of fava beans or exposure to their pollen, coupled with a deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD), is not generally considered intractable. While there is no cure for G6PD deficiency, the condition can be managed by avoiding known triggers such as fava beans and certain medications. In most cases, individuals with G6PD deficiency lead normal lives by taking these precautions.
Disease Severity: Favism severity can vary from mild to severe, depending on the extent of red blood cell destruction and individual health factors.
Healthcare Professionals: Disease Ontology ID - DOID:13628
Pathophysiology: Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme in the pentose phosphate pathway (see image, also known as the HMP shunt pathway). G6PD converts glucose-6-phosphate into 6-phosphoglucono-δ-lactone and is the rate-limiting enzyme of this metabolic pathway that supplies reducing energy to cells by maintaining the level of the reduced form of the co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH). The NADPH maintains the supply of reduced glutathione in the cells that is used to mop up free radicals that cause oxidative damage. The pathway also stimulates catalase, an antioxidant enzyme.The G6PD / NADPH pathway is the only source of reduced glutathione in red blood cells (erythrocytes). The role of red cells as oxygen carriers puts them at substantial risk of damage from oxidizing free radicals except for the protective effect of G6PD/NADPH/glutathione.People with G6PD deficiency are therefore at risk of hemolytic anemia in states of oxidative stress. Oxidative stress can result from infection and from chemical exposure to medication and certain foods. Broad beans, e.g., fava beans, contain high levels of vicine, divicine, convicine and isouramil, all of which create oxidants.When all remaining reduced glutathione is consumed, enzymes and other proteins (including hemoglobin) are subsequently damaged by the oxidants, leading to cross-bonding and protein deposition in the red cell membranes. Damaged red cells are phagocytosed and sequestered (taken out of circulation) in the spleen. The hemoglobin is metabolized to bilirubin (causing jaundice at high concentrations). The red cells rarely disintegrate in the circulation, so hemoglobin is rarely excreted directly by the kidney, but this can occur in severe cases, causing acute kidney injury.Deficiency of G6PD in the alternative pathway causes the buildup of glucose and thus there is an increase of advanced glycation endproducts (AGE). The deficiency also reduces the amount of NADPH, which is required for the formation of nitric oxide (NO). The high prevalence of diabetes mellitus type 2 and hypertension in Afro-Caribbeans in the West could be directly related to the incidence of G6PD deficiency in those populations.Although female carriers can have a mild form of G6PD deficiency (dependent on the degree of inactivation of the unaffected X chromosome – see Skewed X-inactivation), homozygous females have been described; in these females there is co-incidence of a rare immune disorder termed chronic granulomatous disease (CGD).
Carrier Status: Favism is a condition that occurs in people with a genetic deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD). This deficiency can lead to the breakdown of red blood cells when the affected individuals consume fava beans or are exposed to certain stressors like infections or specific medications.

1. **Carrier Status**: Carrier status for favism relates to G6PD deficiency, which is an X-linked genetic condition. Males with one altered copy of the gene will express the deficiency, while females typically need two altered copies to exhibit the condition. Females with one altered copy (heterozygous) are carriers and may show mild symptoms or be asymptomatic.

2. **Nan**: It is unclear what specific information "nan" is referring to in the context of favism. If you are asking about a specific aspect like nanotechnology in relation to favism treatment or nanoparticle-based diagnosis, please provide more details for a precise answer.
Mechanism: Favism is a hemolytic response to the consumption of fava beans (Vicia faba) or exposure to its pollen, primarily affecting individuals with a deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD). The mechanism behind favism involves the oxidative stress that fava bean components place on red blood cells, which are already vulnerable due to the G6PD deficiency.

**Mechanism:**
1. **G6PD Deficiency**: G6PD is crucial for the pentose phosphate pathway, which helps maintain the level of reduced glutathione in red blood cells. This enzyme protects the cells from oxidative damage.
2. **Oxidative Stress**: Fava beans contain high amounts of vicine and convicine, compounds that are metabolized into divicine and isouramil, respectively. These metabolites generate reactive oxygen species (ROS).
3. **Hemolysis**: In individuals with G6PD deficiency, the reduced capacity to detoxify ROS leads to oxidative damage to the red blood cell membrane, resulting in hemolysis (destruction of red blood cells).

**Molecular Mechanisms:**
1. **Production of ROS**: Vicine and convicine are hydrolyzed in the gut to produce divicine and isouramil, which generate free radicals.
2. **Insufficient Glutathione**: G6PD-deficient cells cannot regenerate enough reduced glutathione (GSH) to neutralize ROS.
3. **Oxidative Damage**: The ROS cause lipid peroxidation and oxidation of hemoglobin within red blood cells, leading to cell membrane destabilization and hemolysis.
4. **Compromised Antioxidant Defense**: Enzyme deficiency impairs the entire antioxidant defense system in red blood cells, enhancing susceptibility to oxidative stress.

Understanding these processes is critical for managing and preventing favism in susceptible individuals.
Treatment: The most important measure is prevention – avoidance of the drugs and foods that cause hemolysis. Vaccination against some common pathogens (e.g. hepatitis A and hepatitis B) may prevent infection-induced attacks.In the acute phase of hemolysis, blood transfusions might be necessary, or even dialysis in acute kidney failure. Blood transfusion is an important symptomatic measure, as the transfused red cells are generally not G6PD deficient and will live a normal lifespan in the recipient's circulation. Those affected should avoid drugs such as aspirin.Some patients may benefit from removal of the spleen (splenectomy), as this is an important site of red cell destruction. Folic acid should be used in any disorder featuring a high red cell turnover. Although vitamin E and selenium have antioxidant properties, their use does not decrease the severity of G6PD deficiency.AG1, a recently discovered small molecule, has been shown to increase the activity of the G6PD enzyme in the three common variants of the deficiency. Due to the absence of medications to treat G6PD, AG1 is a promising precursor in developing a pharmacological treatment effective for multiple G6PD enzymopathies.
Compassionate Use Treatment: Favism is a condition resulting from an enzyme deficiency known as glucose-6-phosphate dehydrogenase (G6PD) deficiency. There are no specific treatments categorized under compassionate use or experimental treatments for favism. Instead, management primarily involves avoidance of known triggers, such as fava beans and certain medications that can induce hemolysis in affected individuals. In cases of severe hemolysis, supportive care may include:

1. **Blood transfusion**: Administered to counter severe anemia.
2. **Folate supplementation**: To help with red blood cell production.
3. **Avoidance of oxidant drugs**: Such as certain antibiotics (e.g., sulfonamides), antimalarials, and other drugs known to trigger hemolysis in G6PD deficiency.
4. **Hydration and supportive care**: To maintain kidney function and overall health during hemolytic episodes.

Management relies heavily on preventive measures and supportive care rather than experimental or off-label treatments.
Lifestyle Recommendations: For favism (a condition resulting from a deficiency in the enzyme glucose-6-phosphate dehydrogenase or G6PD deficiency):

**Lifestyle Recommendations:**
1. **Avoid Trigger Foods:** Refrain from consuming fava beans and other legumes known to trigger hemolysis in individuals with G6PD deficiency.
2. **Medication Caution:** Avoid certain medications known to induce hemolysis, including but not limited to, sulfa drugs, aspirin, and certain antibiotics like nitrofurantoin.
3. **Manage Infections Promptly:** Seek medical treatment for infections swiftly, as infections can precipitate hemolytic episodes.
4. **Regular Medical Check-ups:** Have regular consultations with a healthcare provider to monitor the condition and receive personalized advice.
5. **Inform Healthcare Providers:** Always inform medical staff of the condition before any treatment or prescription of new medications.

**Diet:**
- Emphasize a balanced diet rich in fruits, vegetables, whole grains, and lean proteins, while avoiding high-risk foods.

**General Precautions:**
- Stay hydrated and maintain good overall health to reduce stress on the body.

Remember, individual recommendations may vary, so consult with a healthcare professional for personalized advice.
Medication: Favism, a condition triggered by the ingestion of fava beans in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency, primarily requires avoidance of fava beans and other oxidative stressors. There is no specific medication to treat favism itself; management focuses on supportive care, such as:

1. **Hydration:** Ensuring the patient is well-hydrated to support kidney function.
2. **Transfusions:** In severe cases of hemolytic anemia, blood transfusions may be necessary.
3. **Oxygen Therapy:** Providing supplemental oxygen if the patient is experiencing severe anemia.

Individuals with G6PD deficiency should avoid certain drugs and foods that can precipitate hemolysis. Always consult a healthcare provider for personalized medical advice.
Repurposable Drugs: Favism is a condition triggered by ingestion of fava beans, leading to hemolytic anemia in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. There are no specific repurposable drugs used to treat or manage favism directly. Management primarily involves avoiding fava beans and other triggers that can precipitate hemolysis. In acute cases, symptomatic treatments such as blood transfusions and supportive care may be necessary. No relevant data is available under the 'nan' parameter.
Metabolites: Favism is a condition associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency that can lead to hemolytic anemia when individuals consume fava beans or come into contact with fava bean pollen. Metabolites involved in this condition include reduced levels of NADPH and glutathione, as well as increased levels of oxidative stress-related compounds such as hydrogen peroxide and free radicals. The lack of NADPH impairs the ability of red blood cells to handle oxidative damage, leading to their premature destruction.
Nutraceuticals: Favism is a condition associated with a deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD). People with this condition are susceptible to hemolytic anemia when they consume fava beans or are exposed to certain oxidative stressors. There is limited evidence on the use of nutraceuticals specifically to treat or manage favism. Management primarily focuses on avoidance of triggers, such as fava beans and certain medications.

As of now, nanotechnology (nan) is not a standard approach in the treatment or management of favism. Research in nanotechnology is ongoing for a variety of medical conditions, but it has not yet been established as a treatment modality for this specific enzyme deficiency.
Peptides: Favism is an acute hemolytic anemia triggered by the ingestion of fava beans (Vicia faba) or exposure to fava bean pollen, primarily in individuals with a deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD). This condition does not directly relate to peptides in a general sense but relates to the enzymatic pathway in which G6PD plays a crucial role.

G6PD deficiency leads to an inability to protect red blood cells from oxidative damage. This oxidative stress, often exacerbated by compounds in fava beans, causes red blood cells to rupture (hemolysis), leading to symptoms such as fever, jaundice, dark urine, and fatigue.

It's important to note that "nan" appears to be an incomplete term and does not apply relevantly in the context of favism. If you meant "nanotechnology" or something related, this field has not yet offered specific therapies directly targeting favism, but ongoing research in nanomedicine might eventually provide innovative approaches for managing oxidative stress-related conditions.