ABSTRACT
Hepatitis-associated aplastic anemia (HAAA) is a well-recognized clinical syndrome in which marrow failure follows the development of hepatitis; it can be observed in up to 5% in the aplastic anemia in West Europe and North American countries and 10% in the East Asia. Although hepatotropic and other viruses were suspected of causing HAAA, this hypothesis was rarely confirmed. Currently, the infection with hepatitis E virus represents the first cause of acute hepatitis in the world. Its genotype 3, the most frequent in Argentina and other Latin American countries, was associated with extrahepatic complications (renal, pancreatic, neurologic and hematologic). To our knowledge, only one case of hepatitis E virus-associated aplastic anemia has been previously reported, in Pakistan; the case presented here would be the first in Argentina. The patient was treated with thymoglobulin, cyclosporine, corticosteroids, filgastrim and transfusional support. She developed fungemia due to Candida tropicalis that remitted with equinocandins and therefore fever, pulmonary infiltrates and a solitary nodular cerebral image with serum galactomannan (DO index > 1.0 ng/ml) that resolved with voriconazol. She was discharged three months after her admission without transfusion requirements and normal hepatic values.With this in mind, it would be advisable to investigate hepatitis E (HEV) as a cause of HAAA in Argentina.
Subject(s)
Anemia, Aplastic/complications , Hepatitis E/complications , Anemia, Aplastic/diagnosis , Female , Humans , Middle AgedABSTRACT
La aplasia medular asociada a hepatitis (HAAA) es una reconocida entidad clínica donde la falla medular es precedida de una hepatitis; se observa hasta en el 5% de las aplasias en Europa occidental y América del Norte y hasta en el 10% de ellas en el Este asiático. Se ha sospechado de los virus hepatotropos y otros virus como responsables de HAAA, pero esta asociación raramente se ha confirmado. La hepatitis por virus E es la causa más frecuente de hepatitis viral en el mundo. Su genotipo 3, de mayor circulación en la Argentina y otros países de Latinoamérica, puede presentar complicaciones extrahepáticas (renales, neurológicas, pancreáticas y hematológicas). Hasta aquí, en nuestro conocimiento solo se ha publicado un caso de HAAA por virus de la hepatitis E en Pakistán; el que ahora presentamos sería el primero comunicado en la Argentina. La paciente fue tratada con timoglobulina, ciclosporina, corticosteroides, filgastrim y soporte transfusional. Desarrolló fungemia por Candida tropicalis que respondió a equinocandinas, y luego infiltrados pulmonares e imagen nodular cerebral con galactomananos en suero (índice DO > 1.0 ng/ml) que resolvieron con voriconazol. Fue dada de alta independiente de transfusiones, tres meses después de su admisión, con hepatograma normal. Teniendo en cuenta este caso, sería conveniente investigar la hepatitis E como causa de HAAA en la Argentina.
Hepatitis-associated aplastic anemia (HAAA) is a well-recognized clinical syndrome in which marrow failure follows the development of hepatitis; it can be observed in up to 5% in the aplastic anemia in West Europe and North American countries and 10% in the East Asia. Although hepatotropic and other viruses were suspected of causing HAAA, this hypothesis was rarely confirmed. Currently, the infection with hepatitis E virus represents the first cause of acute hepatitis in the world. Its genotype 3, the most frequent in Argentina and other Latin American countries, was associated with extrahepatic complications (renal, pancreatic, neurologic and hematologic). To our knowledge, only one case of hepatitis E virus-associated aplastic anemia has been previously reported, in Pakistan; the case presented here would be the first in Argentina. The patient was treated with thymoglobulin, cyclosporine, corticosteroids, filgastrim and transfusional support. She developed fungemia due to Candida tropicalis that remitted with equinocandins and therefore fever, pulmonary infiltrates and a solitary nodular cerebral image with serum galactomannan (DO index > 1.0 ng/ml) that resolved with voriconazol. She was discharged three months after her admission without transfusion requirements and normal hepatic values.With this in mind, it would be advisable to investigate hepatitis E (HEV) as a cause of HAAA in Argentina.
Subject(s)
Female , Humans , Middle Aged , Anemia, Aplastic/complications , Hepatitis E/complications , Anemia, Aplastic/diagnosisABSTRACT
La aplasia medular asociada a hepatitis (HAAA) es una reconocida entidad clínica donde la falla medular es precedida de una hepatitis; se observa hasta en el 5% de las aplasias en Europa occidental y América del Norte y hasta en el 10% de ellas en el Este asiático. Se ha sospechado de los virus hepatotropos y otros virus como responsables de HAAA, pero esta asociación raramente se ha confirmado. La hepatitis por virus E es la causa más frecuente de hepatitis viral en el mundo. Su genotipo 3, de mayor circulación en la Argentina y otros países de Latinoamérica, puede presentar complicaciones extrahepáticas (renales, neurológicas, pancreáticas y hematológicas). Hasta aquí, en nuestro conocimiento solo se ha publicado un caso de HAAA por virus de la hepatitis E en Pakistán; el que ahora presentamos sería el primero comunicado en la Argentina. La paciente fue tratada con timoglobulina, ciclosporina, corticosteroides, filgastrim y soporte transfusional. Desarrolló fungemia por Candida tropicalis que respondió a equinocandinas, y luego infiltrados pulmonares e imagen nodular cerebral con galactomananos en suero (índice DO > 1.0 ng/ml) que resolvieron con voriconazol. Fue dada de alta independiente de transfusiones, tres meses después de su admisión, con hepatograma normal. Teniendo en cuenta este caso, sería conveniente investigar la hepatitis E como causa de HAAA en la Argentina.(AU)
Hepatitis-associated aplastic anemia (HAAA) is a well-recognized clinical syndrome in which marrow failure follows the development of hepatitis; it can be observed in up to 5% in the aplastic anemia in West Europe and North American countries and 10% in the East Asia. Although hepatotropic and other viruses were suspected of causing HAAA, this hypothesis was rarely confirmed. Currently, the infection with hepatitis E virus represents the first cause of acute hepatitis in the world. Its genotype 3, the most frequent in Argentina and other Latin American countries, was associated with extrahepatic complications (renal, pancreatic, neurologic and hematologic). To our knowledge, only one case of hepatitis E virus-associated aplastic anemia has been previously reported, in Pakistan; the case presented here would be the first in Argentina. The patient was treated with thymoglobulin, cyclosporine, corticosteroids, filgastrim and transfusional support. She developed fungemia due to Candida tropicalis that remitted with equinocandins and therefore fever, pulmonary infiltrates and a solitary nodular cerebral image with serum galactomannan (DO index > 1.0 ng/ml) that resolved with voriconazol. She was discharged three months after her admission without transfusion requirements and normal hepatic values.With this in mind, it would be advisable to investigate hepatitis E (HEV) as a cause of HAAA in Argentina.(AU)
ABSTRACT
The diagnosis and management of von Willebrand disease (VWD) in paediatrics is challenging. Our aim was to review patient's characteristics related to biological and clinical response to DDAVP in children with low von Willebrand factor (VWF) levels and bleeding history from a single institution. We included a retrospective cohort of 221 children (median age 11 years; 137 females): 27 type 1 (VWF levels within 15-30 IU dL-1) and 194 possible type 1 (VWF levels within 31-49 IU dL-1). The DDAVP infusion-test was performed in 214/221 children, 93.4% of whom showed good response. Patients with type 1 were at higher risk of DDAVP-test failure: 9/26 (34.6%) vs. 18/188 (9.6%) with possible type 1 (RR 3.44, 1.75-6.79; p= 0.002, Fisher's exact test). In 68 children, the clinical response to DDAVP was evaluated 87 times: i) to stop bleeding: menorrhagia (13), mucocutaneous (12), haemarthrosis (1); and ii) to prevent surgical bleeding: adenotonsillectomy (17), major (15) and minor surgery (10); and dental procedures (19). No major adverse events or bleeding were observed. The treatment was effective with one single dose of DDAVP in almost all patients, without antifibrinolytic or local therapy, except in a girl with severe haemorrhage during menarche who required replacement therapy. In conclusion, patients with VWD type 1 were at higher risk of no response to DDAVP infusion-test. In this series, one dose of DDAVP proved effective and safe for children with VWD. Since this is a safe, effective and affordable therapy, we consider that a wider use should be promoted, especially in developing countries.
Subject(s)
Deamino Arginine Vasopressin/administration & dosage , Hemorrhage/drug therapy , Hemostatics/administration & dosage , von Willebrand Diseases/drug therapy , von Willebrand Factor/analysis , Adolescent , Argentina , Biomarkers/blood , Child , Female , Hemorrhage/blood , Hemorrhage/etiology , Humans , Infusions, Intravenous , Male , Treatment Outcome , von Willebrand Diseases/blood , von Willebrand Diseases/complicationsABSTRACT
BACKGROUND AND OBJECTIVE: Monoallelic deletion of 13q14.3 (13q14x1) is the most common abnormality in chronic lymphocytic leukemia (CLL). As a sole alteration, it predicts a favorable outcome. Biallelic 13q14.3 (13q14x2) deletion or concomitant 13q14x1/13q14x2 has been scarcely evaluated in the literature. We present the clinical, cytogenetic and fluorescence in situ hybridization (FISH) analysis of six CLL patients with normal karyotypes and 13q14x2 and their comparison to cases with 13q14x1 as a single abnormality. PATIENTS AND METHODS: A total of 103 CLL patients were studied. Cytogenetic and FISH analysis were performed on stimulated peripheral blood lymphocytes. Specific fluorescence DNA probes for CLL were used. RESULTS: Six out of 103 (5.8%) patients showed normal karyotypes and 13q14x2. It was observed as a single alteration in one patient and combined with 13q14x1 in five cases. Biallelic clones were larger than monoallelic ones in 3/5 patients (60%). The comparison of clinical and hematological data between 13q14x1 and 13q14x2 groups showed progression of the disease in all 13q14x2 patients respect to 12/32 (37.5%) cases with 13q14x1 (P = 0.008), significant differences in the distribution by Rai stage (P = 0.042) and a tendency of a higher lactate dehydrogenase level in 13q14x2 patients (P = 0.054). Treatment free survival for 13q14x2 group was 28.5 months, shorter than those observed in patients with 13q14x1 alone (49 months). CONCLUSIONS: Our data would suggest that 13q14x2 could represent a more aggressive FISH anomaly than 13q14x1 alone, probably as a consequence of clonal evolution and/or due to the complete inactivation of this critical region by mean of more complex mechanisms.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 13 , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Cytogenetic Analysis , Disease Progression , Humans , In Situ Hybridization, Fluorescence , Leukemia, Lymphocytic, Chronic, B-Cell/mortality , Leukemia, Lymphocytic, Chronic, B-Cell/pathology , Lymphocytes , Survival RateABSTRACT
La pérdida monoalélica de la banda 13q14.3 (13q14x1) es la anomalía más frecuente de la leucemia linfocítica crónica (LLC), asociada a buen pronóstico. La deleción bialélica de 13q14.3 (13q14x2) es un evento escasamente evaluado. En este trabajo se analizan las características clínicas, citogenéticas y citomoleculares de 8 pacientes con 13q14x2, de un total de 95 casos (8,4% ) (4 mujeres, edad media 64,7 años; rango 47.77 años). Cinco pacientes habían fallecido al momento de este análisis. Se realizó cultivo de sangre periférica con estimulación mitogénica. Se efectuó FISH (Fluorescence in situ hybridization) empleando las sondas: centromérica del cromosoma 12 y locus específica de: D13S319 (13q14), ATM (llq22) y TP53 (17p13). Cinco casos presentaron cariotipo normal y 3 mostraron otras anomalías: + 12, i(17)(q10) y cariotipo complejo. Seis casos mostraron concomitantemente 13q14x1 y 13q14x2. El análisis por grupo de riesgo citogenético mostró progresión de la enfermedad en los casos con cariotipo normal y 13q14x2 respecto del 38,7% de los pacientes con 13q14x1 (pSubject(s)
Chromosome Deletion
, Leukemia, Lymphocytic, Chronic, B-Cell
