Kasabach-Merrit syndrome (KMS) is very rarely observed in adults associated with visceral hemangi... more Kasabach-Merrit syndrome (KMS) is very rarely observed in adults associated with visceral hemangiomas. Hepatic epithelioid hemangioendothelioma (HEHE) is a very rare clinical entity with an intermediate malignant potential and a mortality rate of 20-30%. We described a case of KMS associated with HEHE in a 70 year old male patient who presented coagulation abnormalities, low platelet count and high fibrin degradation products that were typical features of KMS. Histopathology of the hepatic tissue and a positive immunostaining for endothelial markers confirmed the diagnosis of an HEHE. The first description of KMS was made in children in 1940. It was described as a "consumptive coagulopathy with capillary hemangiomas". However, recent reports have shown that this condition could be associated with kaposiform hemangioendotheliomas, an aggressive form of giant hemangioma. A giant hemangioma in adults as well as an hemangioendothelioma in children could be associated KMS, but an HEHE has been rarely reported in association with this syndrome in adult patients.
The most serious adverse drug reaction of adalimumab (ADR) is tuberculosis reactivation. We descr... more The most serious adverse drug reaction of adalimumab (ADR) is tuberculosis reactivation. We describe a case of a 35-year-old man, with rheumatoid arthritis (RA) and hepatitis C virus genotype 1a with a liver biopsy in 2001 with a METAVIR score pattern A1 F0; he received interferon alpha 2b for six months, but treatment was suspended because of reactivation of RA. Liver function tests after treatment were similar to previous ones showing a minimal cholestatic pattern. In 2008, methotrexate was prescribed, but the drug was withdrawn at the third month because of the appearance of pruritus and Ggt rise. Viral load at that moment was 9300000 UI/mL, log 6,9. The liver biopsy showed a Metavir Score A2 F1. Adalimumab was started in 2010, and at the third month of treatment, Ggt showed a rise of 23 times normal value (NV), alkaline phosphatase 2,5 times NV with AST and ALT with no change. A new liver biopsy showed portal inflammation with eosinophils and a METAVIR A1 F2. We think that adalimumab appears to be responsible for the liver injury, because of temporal relationship, liver biopsy findings, other clinical conditions being discarded, and the improvement of clinical symptoms and biochemical abnormalities when adalimumab was suspended.
The IgG4-related sclerosing disease is characterized by the presence of plasmatic IgG4 positive c... more The IgG4-related sclerosing disease is characterized by the presence of plasmatic IgG4 positive cells and T-lymphocytes infiltration in different organs. We herein report a case of cholestasis due to autoimmune cholangitis associated to IgG4 disease. A 40-year-old woman with a history of pruritus, anosmia, Sjögren's syndrome and diabetes, was referred for a pancreatic tumor. Alkaline phosphatase was 24-fold upper limit of normal (ULN), gamma-glutamyl transpeptidase 21-fold ULN, aspartate aminotransferase 3-fold ULN, alanine aminotransferase 2-fold ULN, cholesterol 408 mg/dL, bilirubin normal, gamma-globulin 3.92 g/dL, IgG4 4.6 g/L, antinuclear antibody positive (1/320), and antimitochondrial antibodies negative. Ultrasound scan (US) showed a mass in the pancreatic head and thickening of the gallbladder and the bile duct walls. Dilation and strictures of the main pancreatic duct and intrahepatic bile ducts were detected by MR cholangiopancreatography. Liver biopsy showed chronic ...
Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a severe liver disorder associat... more Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a severe liver disorder associated with inherited dysfunction of multidrug resistance protein 3 (MDR3/ABCB4), which functions as a phospholipid floppase, translocating phosphatidylcholine from the inner to the outer hemileaflet of the canalicular membrane of hepatocytes. MDR3 deficiency results in a disbalanced bile which may damage the luminal membrane of cells of the hepatobiliary system. We evaluated clinical, biochemical and histological improvement in a genetically proven PFIC-3 patient after long-term ursodeoxycholic acid (UDCA) administration. A PFIC-3 patient and a relative with cholestatic liver disease were studied. Hepatic MDR3 expression was analyzed by immunohistochemistry and ABCB4 mutations were identified. The effect of the mutations on MDR3 expression and subcellular localization was studied in vitro. A 23-year-old man presented cholestasis with severe fibrosis and incomplete cirrhosis. Canalicular sta...
Kasabach-Merrit syndrome (KMS) is very rarely observed in adults associated with visceral hemangi... more Kasabach-Merrit syndrome (KMS) is very rarely observed in adults associated with visceral hemangiomas. Hepatic epithelioid hemangioendothelioma (HEHE) is a very rare clinical entity with an intermediate malignant potential and a mortality rate of 20-30%. We described a case of KMS associated with HEHE in a 70 year old male patient who presented coagulation abnormalities, low platelet count and high fibrin degradation products that were typical features of KMS. Histopathology of the hepatic tissue and a positive immunostaining for endothelial markers confirmed the diagnosis of an HEHE. The first description of KMS was made in children in 1940. It was described as a "consumptive coagulopathy with capillary hemangiomas". However, recent reports have shown that this condition could be associated with kaposiform hemangioendotheliomas, an aggressive form of giant hemangioma. A giant hemangioma in adults as well as an hemangioendothelioma in children could be associated KMS, but an HEHE has been rarely reported in association with this syndrome in adult patients.
The most serious adverse drug reaction of adalimumab (ADR) is tuberculosis reactivation. We descr... more The most serious adverse drug reaction of adalimumab (ADR) is tuberculosis reactivation. We describe a case of a 35-year-old man, with rheumatoid arthritis (RA) and hepatitis C virus genotype 1a with a liver biopsy in 2001 with a METAVIR score pattern A1 F0; he received interferon alpha 2b for six months, but treatment was suspended because of reactivation of RA. Liver function tests after treatment were similar to previous ones showing a minimal cholestatic pattern. In 2008, methotrexate was prescribed, but the drug was withdrawn at the third month because of the appearance of pruritus and Ggt rise. Viral load at that moment was 9300000 UI/mL, log 6,9. The liver biopsy showed a Metavir Score A2 F1. Adalimumab was started in 2010, and at the third month of treatment, Ggt showed a rise of 23 times normal value (NV), alkaline phosphatase 2,5 times NV with AST and ALT with no change. A new liver biopsy showed portal inflammation with eosinophils and a METAVIR A1 F2. We think that adalimumab appears to be responsible for the liver injury, because of temporal relationship, liver biopsy findings, other clinical conditions being discarded, and the improvement of clinical symptoms and biochemical abnormalities when adalimumab was suspended.
The IgG4-related sclerosing disease is characterized by the presence of plasmatic IgG4 positive c... more The IgG4-related sclerosing disease is characterized by the presence of plasmatic IgG4 positive cells and T-lymphocytes infiltration in different organs. We herein report a case of cholestasis due to autoimmune cholangitis associated to IgG4 disease. A 40-year-old woman with a history of pruritus, anosmia, Sjögren's syndrome and diabetes, was referred for a pancreatic tumor. Alkaline phosphatase was 24-fold upper limit of normal (ULN), gamma-glutamyl transpeptidase 21-fold ULN, aspartate aminotransferase 3-fold ULN, alanine aminotransferase 2-fold ULN, cholesterol 408 mg/dL, bilirubin normal, gamma-globulin 3.92 g/dL, IgG4 4.6 g/L, antinuclear antibody positive (1/320), and antimitochondrial antibodies negative. Ultrasound scan (US) showed a mass in the pancreatic head and thickening of the gallbladder and the bile duct walls. Dilation and strictures of the main pancreatic duct and intrahepatic bile ducts were detected by MR cholangiopancreatography. Liver biopsy showed chronic ...
Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a severe liver disorder associat... more Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a severe liver disorder associated with inherited dysfunction of multidrug resistance protein 3 (MDR3/ABCB4), which functions as a phospholipid floppase, translocating phosphatidylcholine from the inner to the outer hemileaflet of the canalicular membrane of hepatocytes. MDR3 deficiency results in a disbalanced bile which may damage the luminal membrane of cells of the hepatobiliary system. We evaluated clinical, biochemical and histological improvement in a genetically proven PFIC-3 patient after long-term ursodeoxycholic acid (UDCA) administration. A PFIC-3 patient and a relative with cholestatic liver disease were studied. Hepatic MDR3 expression was analyzed by immunohistochemistry and ABCB4 mutations were identified. The effect of the mutations on MDR3 expression and subcellular localization was studied in vitro. A 23-year-old man presented cholestasis with severe fibrosis and incomplete cirrhosis. Canalicular sta...
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Papers by Andres Bruno