Favism
| Classification according to ICD-10 | |
|---|---|
| D55.0 | Glucose-6-phosphate dehydrogenase deficiency anemia
Favism |
| ICD-10 online (WHO version 2019) | |
Favism (also: fabism, from Latin: faba - bean) is a pathological course of a G6PD deficiency (glucose-6-phosphate dehydrogenase deficiency) with recurrent hemolysis and chronic anemia . Favism is the most common human enzyme disease; Approx. 7.5% of the world population carry a pathologically altered G6PD gene , i.e. approx. 400 million people worldwide, primarily in the Mediterranean, Middle East, Africa and Southeast Asia. However, in only about one in four the defect is so pronounced that symptoms worth mentioning occur and one can therefore speak of favism.
Because of the glucose-6-phosphate dehydrogenase deficiency can by the consumption of field beans ( Vicia faba inhaling their pollen), and by the use of some drugs a hemolysis are triggered, which can in rare cases lead to death.
Etiology and Distribution
Causes, inheritance
Favism is a hereditary, X-linked recessive disease that is particularly widespread among Sub-Saharan Africans and in the Mediterranean area among Italians (especially Sardinians), Greeks, Sephardic Jews and Arabs, but also among Thais, Chinese and Indians. Approximately 10% of the African-American male population is affected. One reason for this accumulation among certain ethnic groups is probably that the G6PD defect offers a certain resistance to the malaria pathogen that is common in these areas .
Due to the lack of functional glucose-6-phosphate dehydrogenase , insufficient NADPH can be made available to regenerate the glutathione , so that peroxides can attack the membrane and the SH groups of the proteins of the erythrocytes without hindrance .
trigger
In general, hemolysis in favism occurs only when patients ingest substances that produce hydrogen peroxide , such as:
- Beans , especially broad beans ( Vicia faba , hence the name "favism" )
- Peas
- Currants
- Acetylsalicylic acid
- Metamizole
- Sulfonamides
- Vitamin K and derivatives
- naphthalene
- Aniline and derivatives
- Antimalarials
- Nitrofurans
Other triggers can include viral or bacterial infections, stress, and metabolic acidosis .
Symptoms
After consuming the above-mentioned triggers, severe, possibly life-threatening haemolytic anemia with fever , chills , back and abdominal pain and weakness up to shock occurs within hours or a few days . In order to counteract the hemolysis, reticulocytes , the precursor cells of the erythrocytes, are released into the blood. Their glucose-6-phosphate dehydrogenase still shows residual activity in hemizygous, dark-skinned and heterozygous people, so that the crisis can be overcome. In fair-skinned patients, on the other hand, the lack of a functional enzyme is usually much more pronounced, so that hemoglobinuria with complete kidney failure may occur.
therapy
There is currently (2014) no causal therapy. Therapy therefore consists in avoiding the intake of the above-mentioned substances. Life expectancy then does not differ from that of healthy people. In one case of extreme hemolytic crises, human haptoglobin was used to intercept the free hemoglobin in order to reduce the resulting hyperbilirubinemia.
Malaria and favism
The relatively lower prevalence of malaria infections in people with Glc-6-P-DH deficiency who live in malaria endemic areas can be explained by the selection advantage this defect brings: Malaria pathogens ( plasmodia ) are more sensitive to radicals than human cells and therefore cannot multiply sufficiently due to the disruption of the pentose phosphate pathway and the radicals that accumulate in human erythrocytes as a result.
Malaria therapy with chloroquine also triggers hemolysis in the presence of a favism due to the formation of high levels of radicals .
literature
- Pschyrembel - Clinical Dictionary, 258th edition
Web links
Individual evidence
- ^ G6PD Deficiency Association
- ↑ Glucose-6-phosphate dehydrogenase deficiency AMBOSS GmbH, accessed on June 21, 2020.
- Jump up ↑ S Ohga, E Higashi, A Nomura, A Matsuzaki, A Hirono, S Miwa, H Fujii, K Ueda: Haptoglobin therapy for acute favism: a Japanese boy with glucose-6-phosphate dehydrogenase Guadalajara . In: British Journal of Hematology . 89, No. 2, February 1995, ISSN 0007-1048 , pp. 421-423. PMID 7873396 .
- ↑ Glucose-6-phosphate dehydrogenase deficiency - risk drugs for G6PD deficiency AMBOSS GmbH, accessed on June 21, 2020.
