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.

Clinical Manifestations and Therapeutic Findings of the Children with Glucose-6-Phosphate Dehydrogenase Deficiency Presenting Favism.

AIM: Favism is characterized as acute anemia, due to Glucose-6-phosphate dehydrogenase (G6PD) deficiency as a result of fava beans intake. It is associated with paleness, jaundice, and hemoglobinuria. In this study, signs, symptoms and therapeutic findings of the patients with hemolysis due to G6PD deficiency were investigated in Shahid Madani Hospital of Khorramabad, Lorestan. METHODS: This is a single-center cross-sectional descriptive study that was conducted on all children with G6PD deficiency-induced hemolysis. RESULTS: 308 children (64.3% male and 35.7% female) were included in this study. The most common complaint was jaundice (82.5%) and the most common cause of hemolysis was the intake of fava bean (85.7%). 68% of the children were treated with hydration/fluid therapy. Blood transfusion was conducted in 36.36% of the cases and the mean of blood administered was 18.9 cc/kg. CONCLUSION: In this study, hydration therapy was performed in most of the children presenting favism. Also, the incorrect calculation of the amount of blood needed for transfusion increased the frequency of blood transfusions and prolonged hospitalization time.

Anemia hemolítica, causa no habitual pero tampoco rara / Haemolytic anemia, unusual cause but not rare

La anemia es la disminución de la masa eritrocitaria, del hematocrito o de la concentración de hemoglobina en sangre por debajo de dos desviaciones estándar para la edad, sexo y raza. La etiología de la anemia varía según la edad. Las causas de anemia pueden ser clasificadas en tres grandes grupos: por pérdidas sanguíneas, por destrucción de hematíes (anemia hemolítica) y por falta de producción. La causa más frecuente de hemólisis por problema estructural de membrana es la esferocitosis y la causa más frecuente por déficit enzimático es el déficit de glucosa-6-fosfato-deshidrogenasa, seguido del de piruvato quinasa

Anemia is the decrease in erythrocyte mass, hematocrit, or blood hemoglobin concentration below two standard deviations for age, sex and race. The etiology of anemia varies according to age and can be classified into three groups: blood loss, destruction of red blood cells (hemolytic anemia) and failure to produce. The most frequent cause of hemolysis due to a structural membrane problem is spherocytosis and the most frequent cause of enzyme deficiency is glucose-6 phosphate dehydrogenase deficiency followed by the pyruvate kinase deficiency

Déficit de glucosa-6-fosfato deshidrogenasa: revisión a propósito de un caso / Glucose-6-phosphate dehydrogenase deficiency: review apropos of a clinical case

El déficit de glucosa-6-fosfato deshidrogenasa (DG6PDH) es el defecto enzimático más frecuente de los eritrocitos. Se trata de una alteración vinculada a la protección del glóbulo rojo frente al estrés oxidativo. La mayoría de los pacientes están asintomáticos. Clínicamente, se asocia con cuadros de hemólisis, desencadenada por algunos fármacos, infecciones o alimentos. En el caso de asociarse a la la ingesta de habas, se denomina favismo. El tratamiento está enfocado hacia la anemización producida, precisando en algunos casos trasfusión de hematíes. El principal cuidado de estos pacientes es el de evitar los desencadenantes conocidos de la hemólisis. El D6GPDH no se ha relacionado con una disminución de la calidad o compromiso de la vida de estos pacientes. Se presenta en este artículo una revisión del tema a propósito de un caso que debuta desde Atención Primaria (AU)

The glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most common enzymatic corpuscular alteration of the erythrocytes. The disorder is related with an impairment of an enzyme dedicated to the protection against oxidative injuries to the red blood cells. The majority of the patients remain asymptomatic. When symptomatic, it is usually recognized as a haemolytic disease, in turn triggered by some drugs, infections or specific food. Favism encompasses the situations when the alteration is related to the ingestion of fava beans. Acute management of the haemolytic crisis is centered on the anemization of the patient. A transfusion of red blood cells may be necessary in some cases. The main point in the care of these patients is avoiding the potential triggers of a new haemolytic crisis. G6PD has not been related with a poor quality of life when the mentioned cares are taken into account. We present in this article a review of this disorder apropos of a clinical case that debuted in Primary Attention Care (AU)

[Glucose-6-phosphate dehydrogenase deficiency in children: a case report]. / Deficiencia de glucosa 6 fosfato deshidrogenasa en niños: caso clínico.

INTRODUCTION: Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common clinical manifestations of this condition, acute hemolysis, chronic hemolysis, neonatal hyperbilirubinemia, and an asymptomatic form are observed. OBJECTIVE: To analyze the case of a child who presented hemolytic crisis due to favism. CASE REPORT: A 2 year and 7 month old boy with a history of hyperbilirubinemia during the newborn period with no apparent cause, no family history of hemolytic anemia or parental consanguinity. He presented a prolonged neonatal jaundice and severe anemia requiring RBC transfusion. An intake of fava beans 48 h prior to onset of symptoms was reported. G6PD qualitative determination was compatible with this enzyme deficiency. CONCLUSION: G6PD deficiency can be highly variable in its clinical presentation, so it is necessary to keep it in mind during the diagnosis of hemolytic anemia at any age.

Hemolytic crisis in a G6PD-deficient infant after ingestion of pumpkin.

A 8 month-old infant presented with acute onset of severe jaundice, anemia requiring transfusion and Glucose-6-Phosphate Dehydrogenase deficiency. The infant did not take drugs, he did not consume fava beans, but fava beans DNA was found on pumpkin he consumed the day before jaundice onset. This is the first case of hemolysis triggered by ingestion of food cross-contaminated with fava beans.

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.

Do favic patients resume fava beans ingestion later in their life, a study for this, and a new hypothesis for favism etiology.

BACKGROUND AND OBJECTIVES: The etiology of favism remains unclear and the fate of favic patients has not previously been studied. Therefore, individuals who had experienced an episode of favism were studied regarding subsequent fava bean ingestion, including the reason for fava bean ingestion after the initial favic attack and any adverse reactions. In addition, a new hypothesis for the etiology of favism is proposed. PATIENTS AND METHODS: From June 2005 to June 2012, a total of 38 patients with a history of favism were included in this study. Circumstances regarding the initial favic attack were obtained from medical records and patient interviews, and subsequent fava bean ingestion and recurrence of symptoms were investigated. RESULTS: Three of the 38 patients (7.9%) were female, and 35 (92.1%) were male. The mean age was 27.9 years (14-63 years). The first attack of favism occurred before 10 years of age for 31 patients (81.6%) and in the springtime for 35 patients (92.1%). Thirty-three patients (86.7%) regularly ate fava beans before the attack, and 35 (92.1%) resumed eating fava beans within 1-17 years after the attack without symptoms. Two patients (5.2%) experienced a single recurrence of symptoms. No evidence of hemolysis was found in the four patients checked after fava bean re-ingestion. CONCLUSIONS: Patients resumed eating fava bean for various reasons, and the recurrence of symptoms was uncommon. An infectious agent such as a virus may play a role in the development of favism.

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.

[Posthepatic obstructive jaundice caused by primary extragonadal germ-cell tumor in a patient with glucose-6-phosphatase dehydrogenase deficiency]. / Posthepatische Cholestase infolge primär-extragonadaler Manifestation eines Keimzelltumors bei einem Patienten mit Favismus.

HISTORY AND ADMISSION FINDINGS: In patients with glucose-6-phosphatase dehydrogenase (G6PD) deficiency (favism) jaundice is usually caused by hemolysis due to stress, infection or following the application of drugs. We report on a 74-year-old Italian with known G6PD deficiency complaining of jaundice, weight loss and abdominal pain. Physical examination revealed jaundice of the eyes. Scrotal examination by palpation and ultrasound showed no abnormalities. INVESTIGATIONS: Serum levels of beta-human chorionic gonadotropin and alpha-fetoprotein were within normal limits, total bilirubin was extremely elevated, with predominant direct bilirubin. Abdominal ultrasound showed posthepatic blockage of bile flow with a dilated ductus hepatocholedochus (DHC) in the absence of gallstones. Enlarged, multiple contrast-stained paraaortic and retroperitoneal lymph nodes were detected by endoscopic ultrasound and magnetic resonance imaging. Due to failed endoscopic retrograde cholangiopancreatography, visualization of the biliary tree by percutaneous transhepatic cholangiography (PTC) was performed showing an occlusion of the DHC. THERAPY AND COURSE: After successful stent-implantation by PTC with decompression of the biliary tree, the jaundice disappeared. Computer tomography-guided percutaneous biopsy of a retroperitoneal lymph node was performed for histological evaluation showing a primary extragonadal nonseminomatous germ cell tumor. According to the histology (embryonic carcinoma) and clinical stage of the tumor systemic chemotherapy was initiated including cisplatin, etoposide and ifosfamide. After the first cycle of chemotherapy the patient suffered from pneumonia leading to septic shock. Twenty-seven days after admission, the patient died of multiple organ failure. CONCLUSION: Extragonadal germ-cell tumor presenting as retroperitoneal lymph nodes with obstructive jaundice has to be considered in the differential diagnosis of cholestasis.

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)

Favismo: una entidad a tener en cuenta en la zona mediterránea / Favism: a disease to keep in mind in the Mediterranean area

Se denomina favismo a la hemólisis aguda que se desarrolla tras la ingestión de habas o el polen de estas1. Los síntomas se desarrollan horas después de la ingestión, siendo comunes las náuseas, vómitos, malestar y vértigo. A estos síntomas le sigue una hemólisis. El favismo en el área mediterránea se debe a una variante de la glucosa-6-fosfato deshidrogenasa (G6PDH)1. Para su diagnóstico es fundamental una completa anamnesis, exploración física y la determinación de la actividad enzimática para la G6PDH. Los pacientes deben ser educados con unos consejos dietéticos y deben conocer la posibilidad de crisis hemolíticas agudas ante determinadas infecciones y exposición a determinados fármacos o tóxicos

Favism is called acute hemolysis that has developed after intake of fava beans or their pollen1. The symptoms develop hours after intake. The common symptoms are nausea, vomits, malaise and vertigo. Hemolysis follows these symptoms. Favism in the Mediterranean area is due to a variant of glucose-6-phosphate-dehydrogenase (G6PDH)1. A complete anamnesis, physical examination and measurement of enzyme activity for G6PDH are essential for its diagnosis. The patients should be educated with dietary advise and should know the possibility of acute hemolytic episodes when there are certain infections and exposure to certain drugs or toxics