Schistosomal portal hypertension. Assessment of portal bood flow before and after surgical treatment

Objetivo: Avaliar o fluxo sanguíneo portal na esquistossomose hepato-esplênica e o efeito tardio do tratamento cirúrgico na hemodinâmica portal. Método: Foram estudados 64 pacientes por Doppler dúplex: grupo I (pacientes com hipertensão portal esquistossomótica); grupo II (pacientes submetidos a desconexão ázigo-portal com esplenectomia) e grupo III (pacientes submetidos derivação esplenorrenal distal). Resultados: O fluxo da veia porta foi maior no grupo I (1954,46 ± 693,73ml/min) e foi menor no grupo III (639,55 ± 285,86ml/min), neste correlacionou-se com o tempo pós-operatório (r=-0,67, p=0,0005). O fluxo sangüíneo portal do grupo II (1097,18 ± 342,12ml/min) foi semelhante ao de indivíduos normais. As mesmas alterações foram verificadas com relação ao diâmetro da veia porta nos grupos I, II, e III (cm): 1,46 ± 0,23; 1,12 ± 0,22; 0,93 ± 0,20, respectivamente. Conclusões: Estes dados sugerem que: 1) Existe hiperfluxo portal na fisiopatologia da hipertensão portal esquistossomótica; 2) o tratamento cirúrgico interferiu na hemodinâmica portal, diminuindo o fluxo sangüíneo da veia porta; 3) Esta redução do fluxo sangüíneo portal correlacionou-se com o tempo de seguimento pós-operatório no grupo III mas não no grupo II. _________________________________________________________________________________________ ABSTRACT: Background: Assessment of the portal blood flow in hepatoesplenic schistosomosis and the late effect of surgical treatment on portal hemodynamics. Method: Were studied 64 patients by duplex scan: group I (patients with schistosomal portal hypertension); group II (patients who underwent esophagogastric devascularization and splenectomy); group III (patients who underwent distal splenorenal shunt). Results: Portal vein blood flow was the highest in group I (1954.46 ± 693.73 ml/min) and the lowest in group III (639.55 ± 285.86 ml/min) which correlated with follow-up time (r=-0.67, p=0.0005). Group II portal flow (1097.18 ± 342.12 ml/min) was similar to control. The same changes were seen in portal vein diameter in groups I, II, III (cm): 1.46 ± 0.23, 1.12 ± 0.22, 0.93 ± 0.20, respectively. Conclusions: Our data suggest that: 1) there is portal overflow in the physiopathology of schistosomal portal hypertension; 2) surgical treatment has interfered in hemodynamic reducing portal venous blood flow; 3) portal venous blood flow reduction correlated with follow-up time in group III but not in group II

Genetic characteristics of the HHT Italian population: the experience of the three Italian Reference Centres

Objectives: To describe the disease-causing mutations distribution of ENG and ACVRL1 in the HHT Italian population. Methods: Patients were recruited for the clinical screening and the diagnosis in the three main HHT Italian reference centres of Pavia, Crema and Bari. Mutation analyses were performed by DHPLC and/ or Sanger sequencing of ENG and ACVRL1 coding exons. A dedicated mlPA kit (Salsa mlPA Probe mix P093-C2, HHT/PPH1; MRCHolland) was used to detect large deletions and duplications.Results: From 2000 up to October 2016, we collected about 2000 samples from more than 500 families. Until now, we have studied 450 families; a disease-causing mutation was identified in 390 families and about 68% of them have HHT type 2. We found 240 different mutations spread among the whole coding sequence and flanking introns of both genes with the exception of ACVRL1 exon 2 and ENG exons 11 and 15, where no mutation was detected. Noteworthy, about 47% of Patients have a mutation in exons 3, 7 or 8 of ACVRL1. If we consider the geographical origin of the families, a founder effect is suggested for at least 5 mutations. Conclusion: We confirm the peculiar genetic characteristic of the HHT Italian population with a higher incidence of HHT2. In particular, an unexplained 22% of cases carry a mutation in ACVRL1 exon 3. In addition, a founder effect is to be supposed in some geographic regions

Schistosomal portal hypertension: influence of the portal blood flow in serum levels of hepatic enzymes

Objetivo – Avaliar a relação entre o fluxo sangüíneo portal e o perfil laboratorial hepático em pacientes com hipertensão portal esquistossomótica. Pacientes e Métodos – Estudaram-se 64 pacientes com hipertensão portal esquistossomótica, sendo 19 não-operados, 23 submetidos a desconexão ázigo-portal com esplenectomia e 22 submetidos a derivação esplenorrenal distal. Avaliou-se o perfil laboratorial hepático através da dosagem sérica de albumina, transaminases glutâmico-oxalacética e glutâmico-pirúvica, bilirrubinas direta e indireta, fosfatase alcalina, gama-glutamil transferase e avaliação do tempo de protrombina. O fluxo portal foi avaliado por Doppler. Os resultados foram analisados através de regressão linear, coeficiente de correlação de Pearson, teste do Qui-quadrado e análise de variância de um via com pós-teste de Tukey. Resultados – Evidenciou-se que somente a gama-glutamil transferase teve correlação significativa com o fluxo portal. No cotejo dos quartis, também, somente a gama-glutamil transferase mostrou resultado significativo, em que se constatou que o quarto quartil, de maior fluxo portal e formado em sua maioria por pacientes não operados, também foi o de maior valor médio de gama-glutamil transferase e significativamente maior que o primeiro e terceiro quartis. Conclusões – Estes dados sugerem que: quanto maior o fluxo sangüíneo portal, maior o nível sérico de gama-glutamil transferase; a gama-glutamil transferase é a variável da avaliação do perfil hepático mais representativa da influência do fluxo portal na atividade funcional hepática nos pacientes com esquistossomose hepatoesplênica, e é possível que as cirurgias, através de suas modificações hemodinâmicas (diminuição da congestão), sejam também benéficas por diminuírem o grau de colestase presente ou em regredirem a indução microssomal. _________________________________________________________________________________________ ABSTRACT: Aim – To evaluate relation between the portal blood flow and the laboratory hepatic screening in patients with schistosomal portal hypertension. Patients and Methods – Sixty-four patients with schistosomal portal hypertension had studied, being 19 not operated, 23 submitted to esophagogastric devascularization with splenectomy and 22 submitted to distal splenorenal shunt. Evaluated the laboratory hepatic screening through the dosage of albumin, aspartate aminotransferase, alanine aminotransferase, direct bilirubin and indirect bilirubin, alkaline phosphatase, gamma-glutamil transferase and prothrombin time. The portal flow was evaluated for Doppler. The results have been analyzed through linear regression, Pearson correlation coefficient, chi-square and one-way analysis of variance with Tukey's test. Results – It was proven that only gamma-glutamil transferase had significant correlation with the portal flow. In compare of the quartiles, also only gamma-glutamil transferase showed resulted significant, it was evidenced that the fourth quartile, that is bigger portal flow and formed in its majority for patients not operated, also was bigger average of gamma-glutamil transferase and significantly bigger value than first and the third quartiles. Conclusions – 1. The portal blood flow was bigger in patients that the serum level of GGT was bigger; 2. the gamma-glutamil transferase is the variable of the hepatic screening evaluation more representative of the portal flow influence in hepatic functional activity in patients with hepatosplenic schistosomiasis, and 3. probably, the different surgeries through hemodynamics modifications, are beneficial in to diminish the degree of cholestasis or in decrease the microssomal induction