Favism: Clinical Features at Different Ages.

Favism is a hemolytic disease due to the ingestion of fava beans in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. There is wide inter- and intra-individual variability in the development of hemolytic crisis, and several factors influence it: quantity, quality, ripeness of fava beans, and age of onset. In this narrative review of case reports and case series, we reported the predisposing factors and clinical features for four different age groups classified as follows: pregnant women and infants (i.e., exclusively breastfed children); children, from weaned to 11 years; preadolescents and adolescents, from 11 to 18 years; and adults (18 years and older). Some symptoms developed only in specific age groups: death in infants; visual impairment in children; systolic murmur in infants, children, and adolescents; and renal failure in adults. In youngest children or pregnant women the severity is the highest. Some other symptoms were present in all: jaundice, increased bilirubin, splenomegaly, hepatomegaly, discolored urine, tachycardia, pallor, abdominal pain, malaise, vomit, nausea, and dizziness. Laboratory findings are characterized by anemia, reticulocytosis, elevated bilirubin level, and sometimes urinary urobilinogen and methemoglobinemia. In most cases the symptomatology is self-limited and does not release sequelae, but hospitalization and transfusion are often required.

Hepatic transcriptional profiling response to fava bean-induced oxidative stress in glucose-6-phosphate dehydrogenase-deficient mice.

Favism is an acute hemolytic syndrome caused by the ingestion of fava bean (FB) in glucose 6-phosphate dehydrogenase (G6PD) deficient individuals. However, little is known about the global transcripts alteration in liver tissue after FB ingestion in G6PD-normal and -deficient states. In this study, deep sequencing was used to analyze liver genes expression alterations underlying the effects of FB in C3H (Wild Type, WT) and G6PD-deficient (G6PDx) mice and to evaluate and visualize the collective annotation of a list of genes to Gene Ontology (GO) terms associated with favism. Our results showed that FB resulted in a decrease of glutathione (GSH)-to-oxidized glutathione (GSSG) ratio and an increase of malondialdehyde (MDA) both in the G6PDx and WT-control check (CK) mice plasma. Significantly, liver transcript differences were observed between the control and FB-treated groups of both WT and G6PDx mice. A total of 320 differentially expressed transcripts were identified by comparison of G6PDx-CK with WT-CK and were associated with immune response and oxidation-reduction function. A total of 149 differentially expressed genes were identified by comparison of WT-FB with WT-CK. These genes were associated with immune response, steroid metabolic process, creatine kinase activity, and fatty acid metabolic process. A total of 438 differential genes were identified by comparing G6PDx-FB with G6PD-CK, associated with the negative regulation of fatty acid metabolic process, endoplasmic reticulum, iron binding, and glutathione transferase activity. These findings indicate that G6PD mutations may affect the functional categories such as immune response and oxidation-reduction.

Déficit de glucosa-6-fosfato deshidrogenasa: la peregrinación del chico con color / Glucose 6-phosphate-dehydrogenase deficiency: the long tour of the colored boy

El déficit de glucosa-6-fosfato-deshidrogenasa es la enzimopatía más frecuente de los glóbulos rojos. Se trata de una enfermedad ligada al cromosoma X que afecta preferentemente a varones. La prevalencia es de alrededor de 400 millones de personas en el mundo. Pese a esto, se considera una enfermedad "huérfana" en tratamientos y actos médicos necesarios, como la anestesia. Presentamos el caso de un paciente afecto de esta mutación y su periplo por distintas especialidades para lograr una extracción dentaria con anestesia local (AU)

Glucose 6-phosphate-dehydrogenase deficiency is the most common enzymatic disease of red blood cells. This is an X-linked disorder that mainly affects males. The prevalence is about 400 million people worldwide. Despite of this, it is considered an orphan disease in some treatments and medical procedures such as anesthesia. We describe the case of a 9-year-old male patient affected by this mutation and his travel around different specialists in order to achieve a dental extraction under local anesthesia (AU)

Molecular mediators of favism-induced acute kidney injury.

Intolerance to fava beans in subjects with glucose-6-phosphate-dehydrogenase deficiency (favism) may lead to severe hemolytic crises and decreased renal function. Renal biopsy findings exploring the molecular mechanisms of renal damage in favism have not been previously reported. We report a case of favism-associated acute kidney injury in which renal biopsy showed acute tubular necrosis and massive iron deposits in tubular cells. Interestingly, iron deposit areas were characterized by the presence of oxidative stress markers (NADPH-p22 phox and heme-oxigenase-1) and macrophages expressing the hemoglobin scavenger receptor CD163. In addition, iron deposits, NADPH-p22 phox, hemeoxigenase- 1 and CD163 positive cells were observed in some glomeruli. These results identify both glomerular and tubular involvement in favism-associated acute kidney injury and suggest novel therapeutic targets to prevent or accelerate recovery from acute kidney injury.

Insuficiencia renal aguda secundaria como manifestación inicial de favismo en un adulto mayor: Caso clínico / Favism presenting as an acute renal failure: Report of one case

Background: We report a 67-year-old man presenting with abdominal pain of acute onset, pallor, jaundice and behavioral changes after ingestion of fava beans. In the initial evaluation he appeared acutely ill and had resting dyspnea, edema and jaundice. His initial laboratory assessment disclosed azotemia, elevated lactate dehydrogenase levels, a low hemoglobin concentration (4.9 /dL) and a high corrected reticulocyte count (4,7%) with negative direct and indirect Coombs' test. The patient was transferred to the ICU, where he received support therapy with hemodialysis, mechanical ventilation, vasoactive drugs and transfusions of packed red cells. The evolution after 1 month was favorable and he was discharged without anemia and with normal renal function. Three months after discharge, the glucose-6-phosphate-dehydrogenase screening study did not demonstrate detectable enzymatic activity.

[Favism presenting as an acute renal failure: report of one case]. / Insuficiencia renal aguda secundaria como manifestación inicial de favismo en un adulto mayor: caso clínico.

We report a 67-year-old man presenting with abdominal pain of acute onset, pallor, jaundice and behavioral changes after ingestion of fava beans. In the initial evaluation he appeared acutely ill and had resting dyspnea, edema and jaundice. His initial laboratory assessment disclosed azotemia, elevated lactate dehydrogenase levels, a low hemoglobin concentration (4.9 /dL) and a high corrected reticulocyte count (4,7%) with negative direct and indirect Coombs' test. The patient was transferred to the ICU, where he received support therapy with hemodialysis, mechanical ventilation, vasoactive drugs and transfusions of packed red cells. The evolution after 1 month was favorable and he was discharged without anemia and with normal renal function. Three months after discharge, the glucose-6-phosphate-dehydrogenase screening study did not demonstrate detectable enzymatic activity.

«De color amarillo» / «Yellow colour»

En atención primaria la orientación diagnóstica es clave en la consulta diaria. El manejo correcto de los diagnósticos diferenciales es pieza fundamental en nuestra práctica. En este artículo exponemos un caso clínico que engloba el manejo de 2 bloques fundamentales, el primero de la ictericia y el segundo de la anemia hemolítica. Aprendiendo sobre el manejo, tratamiento y atención a la familia(AU)

In Primary Care the initial diagnostic approach is an essential factor. The correct handling of the differential diagnosis is fundamental in our practice. We present a clinical case which involves the management of two fundamental parts; the first is the jaundice and the second is haemolytic anemia. Learning about, the management, treatment and family care(AU)

Unsuspected glucose-6-phosphate dehydrogenase deficiency presenting as symptomatic methemoglobinemia with severe hemolysis after fava bean ingestion in a 6-year-old boy.

We report the occurrence of symptomatic methemoglobinemia in a previously healthy boy, who presented with severe acute hemolysis after fava bean ingestion. The methemoglobinemia revealed a previously unrecognized glucose-6-phosphate dehydrogenase (G6PD) deficiency. We discuss the pathophysiology of severe methemoglobinemia when associated with acute hemolysis, favism, and the common African G6PD A-variant [G6PD, VAL68MET, ASN126ASP]. In conclusion, screening for G6PD deficiency must be considered in symptomatic methemoglobinemia, especially in young boys, when associated with intravascular hemolysis.

[A boy with jaundice]. / Een jongetje met icterus.

A 1-year-old Moroccan boy was referred because of jaundice. A peripheral blood smear showed 'blister cells'. This finding is characteristic for haemolysis caused by glucose-6-phosphate dehydrogenase deficiency. It appeared hemolysis occurred because the boy ate fava beans.

Estás ictérico, ¿qué has comido? / You have jaundice. What did you eat?

La glucosa-6-fosfato deshidrogenasa (G6PD) es una enzima presente en los glóbulos rojos. La mayoría de las personas que presentan déficit de esta enzima se encontraran asintomáticas a lo largo de toda la vida. Pero si el paciente entra en contacto con alguno de los factores desencadenantes (habas, algunos antibióticos, infecciones) puede presentar una anemia hemolítica severa que debutará con icteria, astenia y coluria. El déficit de esta enzima es hereditario ligado al cromosoma X, así pues es transmitida por las madres portadoras a la mitad de sus hijos varones, las hijas que reciben el gen pueden verse afectadas o ser portadoras, siendo importante el consejo genético. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme present in red blood cells. Most people who have this enzyme deficiency were asymptomatic throughout life. But if a patient comes into contact with one of the triggers (beans, some antibiotics, infections) may present a severe hemolytic anemia with icteria debut, asthenia and coluria. The deficit of this enzyme is linked to hereditary X chromosome, so it is transmitted by mothers to half their sons, daughters who receive the gene may be affected or be carriers,being the important genetic counseling (AU)

Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme present in red blood cells. Most people who have this enzyme deficiency have been asymptomatic throughout their life. However, when a patient comes into contact with one of the triggering factors (beans, some antibiotics, infections), they may present with severe hemolytic anemia that debuts with jaundice, asthenia and coluria. The deficiency of this enzyme is hereditary and is linked to the X chromosome. It is transmitted by mothers to half of their sons. The daughters who receive the gene may be affected or be carriers, so that genetic counseling is important (AU)

Mediterranean glucose-6-phosphate dehydrogenase (G6PD(C563T)) mutation among Jordanian females with acute hemolytic crisis.

OBJECTIVE: To evaluate the G6PD(C563T) Mediterranean mutation among Jordanian females who were admitted to Princess Rahma Teaching Hospital (PRTH) with/or previous history of favism. STUDY DESIGN: A descriptive study. PLACE AND DURATION OF STUDY: Jordanian University of Science and Technology and PRTH, from October 2003 to October 2004. METHODOLOGY: After obtaining approval from the Ethics Committee of Jordanian University of Science and Technology, a total of 32 females were included in this study. Samples from 15 healthy individual females were used as a negative control. Blood samples from these patients were collected and analyzed by allele-specific polymerase chain reaction (AS-PCR) to determine the G6PD(C563T) mutation. RESULTS: Twenty one out of 32 patients were found to be G6PD(C563T) Mediterranean mutation (65.6%) positive. Three out of 21 patients were homozygous and remaining 18 were heterozygous for G6PD(C563T) Mediterranean mutation. Eleven (34.4%) out of 32 patients were found to be negative for G6PD(C563T) mutation indicating the presence of other G6PD mutations in the study sample. CONCLUSION: G6PD(C563T) Mediterranean mutation accounted for 65.6% of the study sample with favism in the North of Jordan. There is likely to be another G6PD deficiency variant implicated in acute hemolytic crisis (favism).

Drug-eluting stents in a patient with favism: is the aspirin administration safe?

We describe the case of a 64-year-old patient with glucose-6-phosphate dehydrogenase deficiency who was referred to our hospital because of an acute inferior myocardial infarction.Given the possible risk of acute haemolytic anaemia, aspirin was not given in the acute phase, and the patient was successfully treated by balloon angioplasty of the right coronary artery.After functional and genetic testing showing the presence of the Mediterranean mutation, known to be a class II variant, the patient received oral daily aspirin (100 mg) under strict monitoring in order to promptly detect any sign of haemolysis. After 4 days, a complex percutaneous coronary intervention with an implantation of two drug-eluting stents was successfully performed on the left coronary artery. After 3 months, the patient is free from adverse events.Glucose-6-phosphate dehydrogenase deficiency is commonly considered a contraindication to aspirin intake; however, this case shows that aspirin at low, antiplatelet dosage is well tolerated and should not be denied to patients with ischaemic heart disease and complex coronary anatomy.

Ictericia, anemia, favismo / Icterus, anemia, favism

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[Anesthesia in patients with glucose-6-phosphate dehydrogenase deficiency: case report and perioperative anesthesiologic management]. / Anästhesie bei Patienten mit Glukose-6-Phosphat-Dehydrogenase-Mangel: Fallbericht und perioperatives anästhesiologisches Management.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a frequent congenital human enzyme defect, is the most frequent cause of hemolytic anemia triggered by drugs or infectious diseases. Drugs which induce acute hemolysis in patients with G6PD deficiency are often used in anesthesia and perioperative pain therapy. Considering the fact that patients from geographic regions with a high prevalence of the disease are often treated in European hospitals, special attention should be paid to this problem. We report a case of a 30-year-old female patient with favism and review the disease and anesthesia-related implications.

Megaesophagus in an asthmatic patient and beta2 stimulant treatment by inhalation.

Megaesophagus is a severe esophageal malformation. We report a case of megaesophagus in an asthmatic patient affected by congenital non-haemolytic anaemia and undergoing beta2 stimulant treatment by inhalation. Our case could be due to chronic beta2 receptor stimulation with imbalance of alpha and beta receptor, without any implication of favism.

Neonatal nucleated red blood cells in G6PD deficiency.

The objective of this study is to study the absolute number of nucleated red blood cells (RBC) at birth, an index of active fetal erythropoiesis, in infants with G6PD deficiency and in controls. We tested the hypothesis that hematocrit and hemoglobin would be lower, and absolute nucleated RBC counts higher, in the G6PD deficient and that these changes would be more prominent in infants exposed passively to fava bean through maternal diet. Thirty-two term infants with G6PD deficiency were compared with 30 term controls. Complete blood counts with manual differential counts were obtained within 12 hours of life. Absolute nucleated RBC and corrected leukocyte counts were computed from the Coulter results and the differential count. G6PD deficient patients did not differ from controls in terms of gestational age, birth weight, or Apgar scores or in any of the hematologic parameters studied, whether or not the mother reported fava beans consumption in the days prior to delivery. Although intrauterine hemolysis is possible in G6PD deficient fetuses exposed passively to fava beans, our study supports that such events must be very rare.