Favism – Who Should Avoid Fava Beans?

Commonly referred to as "bean disease," fauvism constitutes an inherited metabolic disorder characterized by deficient activity of the glucose-6-phosphate dehydrogenase (G6PD) enzyme. This congenital enzymatic impairment predisposes affected individuals to erythrocyte hemolysis upon exposure to specific triggers, including ingestion of certain legumes (notably broad beans), particular pharmaceutical agents, or infectious pathogens. From an epidemiological perspective, the condition exhibits a markedly higher prevalence among males, a pattern attributable to its X-linked recessive inheritance: while females often serve as asymptomatic carriers of the pathogenic variant, the clinically overt form of the disease predominantly affects male individuals due to hemizygosity for the X chromosome.

Let us examine the etymology and medical context of the term "favism," derived from the Latin *Vicia faba*—the scientific designation for the fava bean. This condition, classified as an inherited hemolytic anemia, becomes clinically apparent or exacerbates following the ingestion of raw fava beans (*Vicia faba*) or exposure to their pollen. As documented in the peer-reviewed *American Family Physician* journal, published by the American Academy of Family Physicians, individuals diagnosed with favism experience acute symptomatic episodes not only after consuming fava beans but also upon intake of other leguminous plants, including the common bean (*Phaseolus vulgaris*), garden pea (*Pisum sativum*), lentil (*Lens culinaris*), or chickpea (*Cicer arietinum*). The pathophysiological mechanism underlying this disorder centers on massive erythrocyte destruction (hemolysis), culminating in severe hemolytic anemia and jaundice—manifesting as yellowing of the skin and mucous membranes due to elevated bilirubin concentrations. Associated clinical features encompass recurrent nausea with vomiting, diffuse and intense cephalalgia, abdominal and lumbar pain, metabolic fatigue of chronic duration, and dark, reddish-brown discoloration of urine (hemoglobinuria) resulting from the release of hemoglobin from lysed red blood cells.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency represents an X-linked metabolic disorder whose inheritance follows the principles of sex-chromosome genetics. The gene encoding this critical enzyme of carbohydrate metabolism is located on the long arm of the X chromosome (Xq28), one of the two sex-determining chromosomes in humans. Due to the hemizygous nature of the 23rd chromosome pair (females: XX; males: XY), the symptomatic manifestation of the disease occurs far more frequently in males, who possess only a single X chromosome. While females may carry the mutation asymptomatically, they can transmit the defective allele to offspring without exhibiting clinical signs themselves. This phenomenon is explained by functional compensation—women with one intact G6PD gene copy remain phenotypically unaffected despite harboring a mutated allele. G6PD plays a pivotal role in the erythrocyte pentose phosphate pathway, where it catalyzes the reduction of NADP+ to NADPH, an indispensable cofactor for regenerating reduced glutathione (GSH). GSH serves as a primary antioxidant defense mechanism by neutralizing reactive oxygen species. Its deficiency triggers premature hemolysis of red blood cells, clinically presenting as hemolytic anemia, hyperbilirubinemia (jaundice), and systemic hypoxic symptoms such as headaches, nausea, fatigue, and accelerated exhaustibility.

Favism constitutes a hereditary metabolic disorder rooted in a genetic defect that is transmitted across generations—most notably from mother to offspring. Epidemiological data reveal a marked gender disparity, with males exhibiting a significantly higher incidence than females, suggesting a potential linkage to the X chromosome. Of particular note is the disease’s geographic distribution: prevalence rates are highest among populations inhabiting the Mediterranean basin, the African continent, and regions of Southwest Asia. In Poland, favism is diagnosed relatively infrequently, with estimates indicating an occurrence of approximately 0.1% within the general population. Nevertheless, despite the risks associated with the intolerance of certain leguminous plants, their exclusion from the diet should not be undertaken without valid medical justification. These plants serve as a rich source of plant-based protein, dietary fiber, and essential micronutrients, and their incorporation into daily meals—as a substitute for various meat products—can not only introduce novel gustatory experiences but also foster a more diverse, flavorful, and nutritionally balanced dietary pattern.