Background:Porto-sinusoidal vascular disease(PSVD)and portal vein thrombosis(PVT)are causes of portal hypertension characterized respectively by an intrahepatic and a pre-hepatic obstacle to the flow in the portal sys...Background:Porto-sinusoidal vascular disease(PSVD)and portal vein thrombosis(PVT)are causes of portal hypertension characterized respectively by an intrahepatic and a pre-hepatic obstacle to the flow in the portal system.As PVT may be a consequence of PSVD,in PVT patients at presentation,a pre-existing PSVD should be suspected.In these patients the identification of an underlying PSVD would have relevant implication regarding follow-up and therapeutic management,but it could be challenging.In this setting ultrasonography may be valuable in differential diagnosis.The aim of the study was to use ultrasonography to identify parameters to discriminate between PSVD and“pure”PVT and then to suspect PVT secondary to a pre-existing PSVD.Methods:Fifty-three patients with histologically proven PSVD and forty-eight patients affected by chronic PVT were enrolled and submitted to abdominal ultrasonography with elastography by acoustic radiation force impulse(ARFI).Results:ARFI was higher and superior mesenteric vein(SMV)diameter was wider in PSVD patients than in PVT patients.Thus,a prognostic score was obtained as linear combinations of the two parameters with a good discrimination capacity between PSVD and PVT(the area under the curve=0.780;95%confidence interval:0.690-0.869).Conclusions:A score based on ARFI and SMV diameter may be useful to suspect an underlying PSVD in patients with PVT and to identify a subgroup of patients to be submitted to liver biopsy.展开更多
BACKGROUND Protein-losing enteropathy(PLE)is a rare cause of hypoalbuminemia that can be attributed to intestinal lymphangiectasia.Patients with Noonan syndrome may present with disorder of lymph vessel formation.Howe...BACKGROUND Protein-losing enteropathy(PLE)is a rare cause of hypoalbuminemia that can be attributed to intestinal lymphangiectasia.Patients with Noonan syndrome may present with disorder of lymph vessel formation.However,PLE is rarely reported with Noonan syndrome.CASE SUMMARY A 15-year-old female was hospitalized multiple times for recurrent edema and diarrhea secondary to hypoalbuminemia.Additional manifestations included a ventricular septal defect at birth,intermuscular hemangioma,slightly wide interocular and intermammary distances,and absence of the distal phalanx of the left little finger since birth.Abdominal computed tomography revealed cavernous transformation of the portal vein,and liver biopsy indicated“porto-sinusoidal vascular disease”.Whole exome and Sanger sequencing revealed a heterozygous mutation(exon9:C.850C>T:P.R284C)in leucine zipper-like transcription regulator 1,suggesting Noonan syndrome type 10.Further examinations revealed thoracic duct dysplasia and intestinal lymphangiectasia causing PLE in this patient.A multidisciplinary team decided to address thoracic duct dysplasia with outlet obstruction.Approximately two years after the microsurgical relief of the thoracic duct outlet obstruction,the patient achieved persistent normal serum albumin level without edema or diarrhea.Furthermore,the relevant literatures on Noonan syndrome and PLE were reviewed.CONCLUSION Herein,we reported the first case of PLE associated with Noonan syndrome caused by a rare genetic mutation in leucine zipper-like transcription regulator 1(c.850C>T:P.R284C)with newly reported manifestations.This case presented the successful treatment of clinical hypoalbuminemia attributed to thoracic duct dysplasia,intestinal lymphangiectasia and PLE.展开更多
BACKGROUND Cardiopulmonary changes in noncirrhotic portal hypertension(NCPH)are poorly understood.AIM To investigate cardiopulmonary changes using transthoracic echocardiography(TTE)in NCPH and their correlation with ...BACKGROUND Cardiopulmonary changes in noncirrhotic portal hypertension(NCPH)are poorly understood.AIM To investigate cardiopulmonary changes using transthoracic echocardiography(TTE)in NCPH and their correlation with clinical features.METHODS Prospective cohort including 10 preclinical NCPH[without portal hypertension(PH)]and 32 NCPH subjects who underwent TTE with agitated saline injection and comprehensive clinical evaluation were assessed.PH was defined by presence of either varices,ascites or portosystemic shunting.Intrapulmonary vascular dilatation(IPVD)is defined as appearance of microbubbles in the left atrium after three heartbeats.Right ventricular systolic pressure(RVSP)>38 mmHg was used to identify possible porto-pulmonary hypertension.Cardiomyopathy is defined using cirrhotic cardiomyopathy consortium criteria.RESULTS Among 42 subjects,17(40%)had IPVD,4(9.5%)had RVSP>38 mmHg,and 6(14%)had cardiomyopathy.Aspartate aminotransferase to alanine aminotransferase(AST/ALT)(1.3 vs 1,P=0.04)and liver stiffness measurement(LSM)(12.4 kPa vs 7.1 kPa,P=0.03)were higher in those with IPVD.Presence of either LSM>10 or AST/ALT>1.2 aided in identifying subjects with IPVD-sensitivity,specificity,and accuracy of 76%.RVSP correlated with oxygen saturation(r=-0.33),and free right hepatic vein pressure(r=0.43).Those with PH had higher left atrial volume(LAV)(62 mL vs 48 mL,P<0.01),and LAV index(LAVI)(35 m^(2) vs 23 m^(2),P<0.01)compared to those without PH.Total bile acids,especially primary bile acids positively correlated with LAV(r=0.36),and LAVI(r=0.41).CONCLUSION Similar to cirrhotic patients,cardiopulmonary changes are prevalent in NCPH,especially among those with PH.In NCPH,cardiopulmonary changes occur despite preserved synthetic function,suggesting the NCPH model's value in understanding cardiopulmonary dysfunction in liver disease.展开更多
Non-cirrhotic portal hypertension consists of a group of diseases characterized by signs and complications of portal hypertension,which differ from cirrhosis through histological alterations,hemodynamic characterizati...Non-cirrhotic portal hypertension consists of a group of diseases characterized by signs and complications of portal hypertension,which differ from cirrhosis through histological alterations,hemodynamic characterization and,clinical outcome.Because of the similarities in clinical presentation and imaging signs,frequently these patients,and particularly those with porto-sinusoidal vascular disease(PSVD),are misdiagnosed as having liver cirrhosis and thus raising difficulties in their diagnosis.The most challenging differentiation to be considered is between PSVD and cirrhosis and,although not pathognomonic,liver biopsy is still the standard of diagnosis.Although they still require extended validation before being broadly used,new non-invasive methods for the diagnosis of porto-sinusoidal vascular disease,like transient elastography,contrast-enhanced ultrasound or metabolomic profiling,have shown promising results.Another issue is the differentiation between PSVD and chronic extrahepatic portal vein obstruction,especially now when it is known that 40%of patients suffering from PSVD develop portal vein thrombosis.In this particular case,once the portal vein thrombosis occurred,the diagnosis of PSVD is impossible according to the current guidelines.Moreover,so far,the differentiation between PSVD and sinusoidal obstruction syndrome has not been clear so far in particular circumstances.In this review we highlighted the diagnostic challenges regarding the PSVD,as well as the current techniques used in the evaluation of these patients.展开更多
The recently published guidelines on screening,monitoring and treatment update previous guidelines published 25 years ago(1,2).This update is timely as much has happened in the interim.Cystic fibrosis(CF)modulator the...The recently published guidelines on screening,monitoring and treatment update previous guidelines published 25 years ago(1,2).This update is timely as much has happened in the interim.Cystic fibrosis(CF)modulator therapy has dramatically improved prognosis for patients with CF,although it is not yet clear whether liver disease is improved.Our understanding of the pathophysiology of CF liver disease has also changed with the recognition of the importance of non-cirrhotic portal hypertension(3,4).Non-invasive tests for fibrosis and elastography have changed the practice of hepatology and reduced the need for liver biopsy.The guideline committee was made up of experts from North America and Europe and included adult and paediatric hepatologists and pulmonologists together with allied health practitioners and representatives of the CF community.A systematic literature search was performed and a vote of 80%was required to adopt a recommendation.The guidelines contain 7 recommendations for screening,13 for disease monitoring and 14 for treatment.展开更多
Cystic fibrosis-associated liver disease(CFLD)is a significant cause of morbidity and mortality affecting people with cystic fibrosis(PwCF)(1).Approximately 40%of PwCF have liver involvement,defined as the existence o...Cystic fibrosis-associated liver disease(CFLD)is a significant cause of morbidity and mortality affecting people with cystic fibrosis(PwCF)(1).Approximately 40%of PwCF have liver involvement,defined as the existence of any hepatic manifestation,including biochemical liver abnormalities(2).In a small percentage of these patients,liver involvement may ultimately result in the development of portal hypertension(PH)and its complications.The presence of at least two of the following variables-abnormal liver tests,abnormal liver ultrasound(US),abnormal physical examination with hepatosplenomegaly or histologic evidence of liver disease-were historically the basis for the European criteria to define CFLD(3).Nevertheless,the emergence of a new approach for liver assessment as liver elastography has led to the proposal of its inclusion in new diagnostic criteria(4).展开更多
基金This study was approved by Ethical Committee of The Sapienza University of Rome(5068/2018).
文摘Background:Porto-sinusoidal vascular disease(PSVD)and portal vein thrombosis(PVT)are causes of portal hypertension characterized respectively by an intrahepatic and a pre-hepatic obstacle to the flow in the portal system.As PVT may be a consequence of PSVD,in PVT patients at presentation,a pre-existing PSVD should be suspected.In these patients the identification of an underlying PSVD would have relevant implication regarding follow-up and therapeutic management,but it could be challenging.In this setting ultrasonography may be valuable in differential diagnosis.The aim of the study was to use ultrasonography to identify parameters to discriminate between PSVD and“pure”PVT and then to suspect PVT secondary to a pre-existing PSVD.Methods:Fifty-three patients with histologically proven PSVD and forty-eight patients affected by chronic PVT were enrolled and submitted to abdominal ultrasonography with elastography by acoustic radiation force impulse(ARFI).Results:ARFI was higher and superior mesenteric vein(SMV)diameter was wider in PSVD patients than in PVT patients.Thus,a prognostic score was obtained as linear combinations of the two parameters with a good discrimination capacity between PSVD and PVT(the area under the curve=0.780;95%confidence interval:0.690-0.869).Conclusions:A score based on ARFI and SMV diameter may be useful to suspect an underlying PSVD in patients with PVT and to identify a subgroup of patients to be submitted to liver biopsy.
基金Supported by the Shandong Provincial Natural Science Foundation of China,No.ZR2023QH015Qingdao Municipal Natural Science Foundation of China,No.23-2-1-134-zyyd-jch.
文摘BACKGROUND Protein-losing enteropathy(PLE)is a rare cause of hypoalbuminemia that can be attributed to intestinal lymphangiectasia.Patients with Noonan syndrome may present with disorder of lymph vessel formation.However,PLE is rarely reported with Noonan syndrome.CASE SUMMARY A 15-year-old female was hospitalized multiple times for recurrent edema and diarrhea secondary to hypoalbuminemia.Additional manifestations included a ventricular septal defect at birth,intermuscular hemangioma,slightly wide interocular and intermammary distances,and absence of the distal phalanx of the left little finger since birth.Abdominal computed tomography revealed cavernous transformation of the portal vein,and liver biopsy indicated“porto-sinusoidal vascular disease”.Whole exome and Sanger sequencing revealed a heterozygous mutation(exon9:C.850C>T:P.R284C)in leucine zipper-like transcription regulator 1,suggesting Noonan syndrome type 10.Further examinations revealed thoracic duct dysplasia and intestinal lymphangiectasia causing PLE in this patient.A multidisciplinary team decided to address thoracic duct dysplasia with outlet obstruction.Approximately two years after the microsurgical relief of the thoracic duct outlet obstruction,the patient achieved persistent normal serum albumin level without edema or diarrhea.Furthermore,the relevant literatures on Noonan syndrome and PLE were reviewed.CONCLUSION Herein,we reported the first case of PLE associated with Noonan syndrome caused by a rare genetic mutation in leucine zipper-like transcription regulator 1(c.850C>T:P.R284C)with newly reported manifestations.This case presented the successful treatment of clinical hypoalbuminemia attributed to thoracic duct dysplasia,intestinal lymphangiectasia and PLE.
基金Supported by Division of Intramural Research Program at National Institute of Diabetes and Digestive and Kidney Diseases,No.1ZIADK075008。
文摘BACKGROUND Cardiopulmonary changes in noncirrhotic portal hypertension(NCPH)are poorly understood.AIM To investigate cardiopulmonary changes using transthoracic echocardiography(TTE)in NCPH and their correlation with clinical features.METHODS Prospective cohort including 10 preclinical NCPH[without portal hypertension(PH)]and 32 NCPH subjects who underwent TTE with agitated saline injection and comprehensive clinical evaluation were assessed.PH was defined by presence of either varices,ascites or portosystemic shunting.Intrapulmonary vascular dilatation(IPVD)is defined as appearance of microbubbles in the left atrium after three heartbeats.Right ventricular systolic pressure(RVSP)>38 mmHg was used to identify possible porto-pulmonary hypertension.Cardiomyopathy is defined using cirrhotic cardiomyopathy consortium criteria.RESULTS Among 42 subjects,17(40%)had IPVD,4(9.5%)had RVSP>38 mmHg,and 6(14%)had cardiomyopathy.Aspartate aminotransferase to alanine aminotransferase(AST/ALT)(1.3 vs 1,P=0.04)and liver stiffness measurement(LSM)(12.4 kPa vs 7.1 kPa,P=0.03)were higher in those with IPVD.Presence of either LSM>10 or AST/ALT>1.2 aided in identifying subjects with IPVD-sensitivity,specificity,and accuracy of 76%.RVSP correlated with oxygen saturation(r=-0.33),and free right hepatic vein pressure(r=0.43).Those with PH had higher left atrial volume(LAV)(62 mL vs 48 mL,P<0.01),and LAV index(LAVI)(35 m^(2) vs 23 m^(2),P<0.01)compared to those without PH.Total bile acids,especially primary bile acids positively correlated with LAV(r=0.36),and LAVI(r=0.41).CONCLUSION Similar to cirrhotic patients,cardiopulmonary changes are prevalent in NCPH,especially among those with PH.In NCPH,cardiopulmonary changes occur despite preserved synthetic function,suggesting the NCPH model's value in understanding cardiopulmonary dysfunction in liver disease.
基金Supported by UEFISCDI,Ministry of Education of Romania,No.PNIII-P1-1.1-PD-2016-0689.
文摘Non-cirrhotic portal hypertension consists of a group of diseases characterized by signs and complications of portal hypertension,which differ from cirrhosis through histological alterations,hemodynamic characterization and,clinical outcome.Because of the similarities in clinical presentation and imaging signs,frequently these patients,and particularly those with porto-sinusoidal vascular disease(PSVD),are misdiagnosed as having liver cirrhosis and thus raising difficulties in their diagnosis.The most challenging differentiation to be considered is between PSVD and cirrhosis and,although not pathognomonic,liver biopsy is still the standard of diagnosis.Although they still require extended validation before being broadly used,new non-invasive methods for the diagnosis of porto-sinusoidal vascular disease,like transient elastography,contrast-enhanced ultrasound or metabolomic profiling,have shown promising results.Another issue is the differentiation between PSVD and chronic extrahepatic portal vein obstruction,especially now when it is known that 40%of patients suffering from PSVD develop portal vein thrombosis.In this particular case,once the portal vein thrombosis occurred,the diagnosis of PSVD is impossible according to the current guidelines.Moreover,so far,the differentiation between PSVD and sinusoidal obstruction syndrome has not been clear so far in particular circumstances.In this review we highlighted the diagnostic challenges regarding the PSVD,as well as the current techniques used in the evaluation of these patients.
文摘The recently published guidelines on screening,monitoring and treatment update previous guidelines published 25 years ago(1,2).This update is timely as much has happened in the interim.Cystic fibrosis(CF)modulator therapy has dramatically improved prognosis for patients with CF,although it is not yet clear whether liver disease is improved.Our understanding of the pathophysiology of CF liver disease has also changed with the recognition of the importance of non-cirrhotic portal hypertension(3,4).Non-invasive tests for fibrosis and elastography have changed the practice of hepatology and reduced the need for liver biopsy.The guideline committee was made up of experts from North America and Europe and included adult and paediatric hepatologists and pulmonologists together with allied health practitioners and representatives of the CF community.A systematic literature search was performed and a vote of 80%was required to adopt a recommendation.The guidelines contain 7 recommendations for screening,13 for disease monitoring and 14 for treatment.
文摘Cystic fibrosis-associated liver disease(CFLD)is a significant cause of morbidity and mortality affecting people with cystic fibrosis(PwCF)(1).Approximately 40%of PwCF have liver involvement,defined as the existence of any hepatic manifestation,including biochemical liver abnormalities(2).In a small percentage of these patients,liver involvement may ultimately result in the development of portal hypertension(PH)and its complications.The presence of at least two of the following variables-abnormal liver tests,abnormal liver ultrasound(US),abnormal physical examination with hepatosplenomegaly or histologic evidence of liver disease-were historically the basis for the European criteria to define CFLD(3).Nevertheless,the emergence of a new approach for liver assessment as liver elastography has led to the proposal of its inclusion in new diagnostic criteria(4).
