favism

Favism: A Hemolytic Anemia Associated with Fava Bean Consumption

Favism is a rare genetic disorder that affects individuals who are deficient in the enzyme glucose-6-phosphate dehydrogenase (G6PD). This condition leads to a hemolytic anemia, characterized by the destruction of red blood cells, upon consumption of fava beans or exposure to their pollen.

Symptoms and Characteristics

The symptoms of favism include:

• Weakness or fatigue
• Pallor (paleness)
• Jaundice (yellowing of the skin and whites of the eyes)
• Dark urine
• Shortness of breath

These symptoms can develop rapidly after consuming fava beans, and individuals with G6PD deficiency are more susceptible to oxidative stress, leading to the rapid destruction of red blood cells.

Prevalence and Demographics

Favism is more prevalent in infants and children, particularly those of Mediterranean descent. The condition is also known to be more common in males than females. However, not all individuals with G6PD deficiency develop favism, and vice versa.

Incidence and Registry

There is no registry for favism, and its incidence is not precisely known. However, studies have reported cases of favism in specific populations, such as the Sassari province of Sardinia, where 948 cases were reported over a 15-year period.

Citations:

• Favism is a hemolytic disease due to the ingestion of fava beans in subjects with glucose-6-phosphate dehydrogenase (G6PD) deficiency. [4]
• Symptoms of favism include weakness or fatigue, pallor, jaundice, and haemoglobinuria. [13]
• Favism is more prevalent in infants and children, particularly those of Mediterranean descent. [10][8]

Favism Signs and Symptoms

Favism, also known as acute hemolytic anemia (AHA), is a condition that occurs in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The symptoms of favism can be severe and life-threatening, especially in children.

Common Symptoms:

• Jaundice: Yellowing of the skin and whites of the eyes
• Dark Urine: Dark or yellow-orange urine due to the breakdown of red blood cells
• Fatigue: Feeling extremely tired or weak
• Dizziness: Feeling lightheaded or dizzy
• Paleness: Pale appearance, especially in darker-skinned individuals (may be visible on the lips or tongue)
• Rapid Heart Rate: Increased heart rate due to the body's response to anemia
• Shortness of Breath: Difficulty breathing due to anemia

Additional Symptoms:

• Abdominal Pain: Pain in the abdominal area, which can range from mild to severe
• Nausea and Vomiting: Feeling queasy or vomiting due to the body's response to anemia
• Fever: Elevated body temperature due to infection or inflammation

Important Note:

Favism symptoms can develop rapidly after consuming fava beans, and in severe cases, it can lead to life-threatening complications. If you suspect someone has favism, seek immediate medical attention.

References:

[6] - Favism symptoms include rapid heart rate, shortness of breath, dark or yellow-orange urine, fever, fatigue, dizziness. [11] - The acute hemolytic anemia symptoms that can be noted in favism are as follows: Patients appear blue in appearance, also known as a favism patient. [12] - These signs and symptoms result from (sometimes massive) destruction of red blood cells (RBCs; acute hemolytic anemia), triggered by certain glucosides present at high concentrations in the fava beans.

Diagnostic Tests for Favism

Favism, also known as glucose-6-phosphate dehydrogenase (G6PD) deficiency-induced hemolytic anemia, is a condition triggered by the consumption of fava beans or pollen in individuals with G6PD deficiency. Diagnosing favism involves identifying the underlying G6PD deficiency and ruling out other potential causes of hemolysis.

• Blood Tests: A blood test can help diagnose G6PD deficiency, which is the underlying cause of favism. The test measures the levels of G6PD enzyme in the blood [7].
• G6PD Test: This test is a semi-quantitative rapid fluorescent spot test that detects the generation of nicotinamide adenine dinucleotide phosphate (NADPH) in red blood cells, indicating the presence or absence of G6PD enzyme [9].
• Clinical Diagnosis: In cases where favism has been suspected based on history and symptoms, a clinical diagnosis can be made by ruling out other potential causes of hemolysis. This may involve a physical examination, medical history, and laboratory tests to confirm the diagnosis [11].

Key Points

• Favism is diagnosed through blood tests that measure G6PD enzyme levels.
• A semi-quantitative rapid fluorescent spot test (Beutler test) can detect NADPH generation in red blood cells.
• Clinical diagnosis involves ruling out other potential causes of hemolysis based on history, symptoms, and laboratory tests.

References

[7] Nov 9, 2021 — Glucose-6-phosphate dehydrogenase (G6PD) enzyme testing helps diagnose G6PD deficiencies that can cause anemia and jaundice. [9] Jun 27, 2023 — The Beutler test is a semi-quantitative rapid fluorescent spot test that detects the generation of nicotinamide adenine dinucleotide phosphate (NADPH) in red blood cells. [11] Favism is a severe hemolytic anemia triggered by fava beans or pollen in people with G6PD deficiency.

Treatment of Favism

Favism, also known as glucose-6-phosphate dehydrogenase (G6PD) deficiency, is a genetic condition that can cause hemolytic anemia in response to certain triggers such as fava beans, infections, and certain medications. While there is no specific treatment for G6PD deficiency, the symptoms of favism can be managed with proper care.

Managing Favism Symptoms

When someone with G6PD deficiency experiences hemolytic anemia due to favism, the treatment is usually straightforward and focused on removing the trigger. This may involve:

• Stopping the use of a medication that is causing the reaction
• Treating an underlying infection
• Avoiding fava beans and other triggers

In mild cases, hydration and symptomatic treatment may be sufficient. However, in more severe cases, blood transfusion may be required to rapidly effective manage the condition.

Preventative Measures

Most individuals with G6PD deficiency do not require specific treatment for their condition. Instead, they can manage their condition by avoiding triggers such as fava beans and certain medications. This approach is often referred to as "preventative management."

• Avoiding Triggers: Individuals with G6PD deficiency should be aware of the potential triggers that can cause hemolytic anemia and take steps to avoid them.
• Screening: Screening for G6PD deficiency before administering certain medications, such as antibiotics and antimalarials, can help prevent adverse reactions.

Conclusion

While there is no specific treatment for G6PD deficiency, managing the symptoms of favism requires a straightforward approach focused on removing the trigger. By taking preventative measures and being aware of potential triggers, individuals with G6PD deficiency can effectively manage their condition and avoid complications.

• [3] Medications that should be avoided in patients with G6PD deficiency are listed in Table 3.
• [4] Antimalarial medicines such as quinine, aspirin (high doses), nonsteroidal anti-inflammatory drugs (NSAIDs), quinidine, and sulfa medicines can trigger hemolytic anemia in individuals with G6PD deficiency.
• [5] Paracetamol and NSAIDS are safe for children with G6PD deficiency.
• [14] Mild cases of favism may need only hydration and symptomatic treatment, while more severe cases may require blood transfusion.

Differential Diagnosis of Favism

Favism, also known as hemolytic anemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency, can be challenging to diagnose due to its variable severity among individuals. The differential diagnosis for favism includes several conditions that may present with similar symptoms.

• Pyruvate kinase deficiency: This is a genetic disorder that affects the production of pyruvate kinase, an enzyme essential for red blood cell function. Like G6PD deficiency, it can lead to hemolytic anemia.
• Hereditary spherocytosis: This is a rare genetic disorder characterized by the production of abnormal red blood cells that are prone to premature destruction. It can cause similar symptoms to favism, including anemia and jaundice.
• Sickle cell disease: Although not directly related to G6PD deficiency, sickle cell disease can also cause hemolytic anemia due to the abnormal shape of red blood cells.
• Thalassemic disorders: These are a group of genetic disorders that affect the production of hemoglobin, leading to anemia and other symptoms similar to favism.

Key Factors in Differential Diagnosis

To accurately diagnose favism, healthcare providers must consider several factors, including:

• Patient history: A thorough understanding of the patient's medical history, including any previous episodes of hemolytic anemia or exposure to fava beans.
• Physical examination: The presence of characteristic physical findings, such as jaundice or pallor.
• Clinical evaluation: A detailed assessment of the patient's overall health and symptoms.
• Specialized tests: Laboratory tests, such as blood counts and enzyme assays, may be necessary to confirm the diagnosis.

References

• [4] Jun 27, 2023 — Differential Diagnoses. Hemolytic Anemia · Hemolytic Disease of the Newborn · Hereditary Spherocytosis · Kernicterus · Methemoglobinemia.
• [5] A person experiencing symptoms, e.g., blood in the urine, and spontaneously reports eating fava beans and comes from an area or a population where G6PD deficiency is prevalent.
• [13] Favism: Red-cell morphology suggestive of oxidant damage or positive Heinz body stain: Congenital non-spherocytic haemolytic anaemia in males or females: Haemoglobinuria: Sickle cell disease* Thalassaemic disorders: Family history of G6PD deficiency or favism: Patients likely to need rasburicase, such as those with leukaemia, lymphoma or other ...