RESUMO
Benign Recurrent Intrahepatic Cholestasis (BRIC) is a rare autosomal recessive disorder characterized by intermittent episodes of jaundice and pruritus. It is also known as Summerskill-Walshe-Tygstrup syndrome. It is a benign disease with no progression to end stage liver disease.. The first episode of cholestatic jaundice occurs early in life and there are asymptomatic periods between attacks lasting weeks to years. This case report presents a young male who presented with severe pruritus and acute onset jaundice. He had his first episode of jaundice at the age of twelve and had several intermittent episodes since then. Diagnosis was made by the unique clinical presentation with exclusion of other causes of cholestatic jaundice. This case report highlights the importance of detecting such cases of rarity and preventing unnecessary invasive diagnostic procedures on such patients.
RESUMO
La colestasis hepática incluye una gran variedad de desórdenes que pueden comprometer la vía intra o extrahepática, requiriendo para su diagnóstico una asociación de hallazgos clínicos, bioquímicos, imagenológicos y en algunos casos, patológicos. Se describe el caso de un paciente que presenta episodios intermitentes y autoresolutivos de ictericia recurrente asociados con dolor abdominal y prurito intenso, en quien se encuentra durante los episodios de agudización un patrón colestásico intrahepático que se resuelve completamente durante los episodios de remisión.
Hepatic cholestasis includes a large variety of disorders which can compromise the intrahepatic and extrahepatic pathways. Diagnosis requires a combination of clinical, biochemical, imaging, and sometimes pathological, findings. We describe the case of a patient with intermittent episodes of jaundice which resolved by themselves but which were and decisive associated with abdominal pain and severe itching. These episodes occurred during exacerbation of the intrahepatic cholestatic pattern but completely resolved during episodes of remission.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Colestase , Colestase Intra-Hepática , Icterícia , PruridoRESUMO
La colestasis, término acuñado por el anátomo-patólogo Hans Pooper en 1956, constituye un verdadero síndrome clínico-analítico, que incluye un amplio espectro de entidades patológicas de severidad y pronóstico variable. Las manifestaciones clínicas principales de la colestasis derivan de la acumulación en plasma de sustancias normalmente excretadas en la bilis, vinculado a la disminución en la excreción biliar al tubo digestivo, base fisiopatológica de este síndrome. En su conjunto, las colestasis pueden clasificarse en intra o extrahepáticas, ictéricas o anictéricas y agudas o crónicas; asimismo, desde una visión etiológica, pueden catalogarse como congénitas, inflamatorias, mecánicas, tóxicas, metabólicas o neoplásicas. En el presente artículo, y a partir del reporte de un caso clínico, se analizan aspectos diagnósticos y terapéuticos del síndrome colestásico, proponiendo un algoritmo de actuación, de acuerdo a la mejor evidencia disponible a la fecha.
Cholestasis, a term coined by Hans Pooper anatomic pathologist in 1956, is a real analytic clinical syndrome that includes a wide spectrum of pathological severity and outcome variable. Major clinical manifestations of cholestasis arising from the accumulation of plasma substances normally excreted in the bile, linked to decreased biliary excretion into the digestive tract, pathophysiological basis of this syndrome. Overall, cholestasis can be classified into intra or extrahepatic, icteric or anicteric and acute or chronic, also from an etiological view can be categorized as congenital, inflammatory, mechanical, toxic, metabolic, or neoplastic. In this article, and from clinical case report, we analyze the diagnostic and therapeutic cholestatic syndrome, proposing an algorithm of action, according to the best evidence available to date.
RESUMO
A 2½-year-old boy presented with pruritus and jaundice of 2 weeks duration. On investigation, serum total bilirubin was 23.4 mg/dL and gamma glutamyl transpeptidase was normal. Liver biopsy was consistent with progressive familial intrahepatic cholestasis (PFIC). A partial external biliary diversion (PEBD) was done. Pruritus disappeared, growth improved and serum total bilirubin became normal, 2 months after surgery. This is the first report from India, of PFIC treated with PEBD and suggests that PEBD should be considered in patients with PFIC even if bridging fibrosis is present.
RESUMO
Benign recurrent intrahepatic cholestasis (BRIC) is a rare desease, which usually manifests between the age of 10 and 20. Its main clinical feature is multiple recurrent episodes of cholestasis without extrahepatic bile duct obstruction. We report here a case of nonfamilial benign recurrent intrahepatic cholestasis. The patient has experienced recurrent jaundice with pruritus since childhood. Main bile duct obstrution was excluded by abdominal CT and endoscopic retrograde cholangiopancreatography. Other causes of cholestasis were not found. Hepatic histology revealed bile plug which were mainly concentrated in the centrilobular region, and increased number of mononuclear cells in the portal triad, but hepatic parenchyma showed no inflammation and necrosis. In the last anicteric period, she was healthy and the liver function test and biopsy specimen were normal.
Assuntos
Humanos , Bile , Ductos Biliares , Ductos Biliares Extra-Hepáticos , Biópsia , Colangiopancreatografia Retrógrada Endoscópica , Colestase , Colestase Intra-Hepática , Inflamação , Icterícia , Testes de Função Hepática , Necrose , Prurido , Tomografia Computadorizada por Raios XRESUMO
Benign recurrent intrahepatic cholestasis (BRIC) is a rare desease, which usually manifests between the age of 10 and 20. Its main clinical feature is multiple recurrent episodes of cholestasis without extrahepatic bile duct obstruction. We report here a case of nonfamilial benign recurrent intrahepatic cholestasis. The patient has experienced recurrent jaundice with pruritus since childhood. Main bile duct obstrution was excluded by abdominal CT and endoscopic retrograde cholangiopancreatography. Other causes of cholestasis were not found. Hepatic histology revealed bile plug which were mainly concentrated in the centrilobular region, and increased number of mononuclear cells in the portal triad, but hepatic parenchyma showed no inflammation and necrosis. In the last anicteric period, she was healthy and the liver function test and biopsy specimen were normal.