Progressive familial intrahepatic cholestasis: A case with improvement in liver tests and growth following partial external biliary diversion

Koshy, Abraham; Ramesh, H.; Mahadevan, Pushpa; Mukkada, Roy J.; Francis, Vadukkoot Jose; Chettupuzha, Antony; Mathew, Pradeep G.; Cyriac, Johny; Augustine, Philip

doi:10.1007/s12664-009-0038-8

Cited by 6 publications

(6 citation statements)

References 8 publications

(5 reference statements)

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“…The published data on PFIC from India is in the form of case reports [103][104][105] and small case series. 106 No data is available regarding the prevalence of PFIC in India.…”

Section: Progressive Familial Intrahepatic Cholestasis In Indiamentioning

confidence: 99%

Progressive Familial Intrahepatic Cholestasis

Srivastava

2014

Journal of Clinical and Experimental Hepatology

206

216

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Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are caused by defect in bile secretion and present with intrahepatic cholestasis, usually in infancy and childhood. These are autosomal recessive in inheritance. The estimated incidence is about 1 per 50,000 to 1 per 100,000 births, although exact prevalence is not known. These diseases affect both the genders equally and have been reported from all geographical areas. Based on clinical presentation, laboratory findings, liver histology and genetic defect, these are broadly divided into three types-PFIC type 1, PFIC type 2 and PFIC type 3. The defect is in ATP8B1 gene encoding the FIC1 protein, ABCB 11 gene encoding BSEP protein and ABCB4 gene encoding MDR3 protein in PFIC1, 2 and 3 respectively. The basic defect is impaired bile salt secretion in PFIC1/2 whereas in PFIC3, it is reduced biliary phospholipid secretion. The main clinical presentation is in the form of cholestatic jaundice and pruritus. Serum gamma glutamyl transpeptidase (GGT) is normal in patients with PFIC1/2 while it is raised in patients with PFIC3. Treatment includes nutritional support (adequate calories, supplementation of fat soluble vitamins and medium chain triglycerides) and use of medications to relieve pruritus as initial therapy followed by biliary diversion procedures in selected patients. Ultimately liver transplantation is needed in most patients as they develop progressive liver fibrosis, cirrhosis and end stage liver disease. Due to the high risk of developing liver tumors in PFIC2 patients, monitoring is recommended from infancy. Mutation targeted pharmacotherapy, gene therapy and hepatocyte transplantation are being explored as future therapeutic options.

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“…The published data on PFIC from India is in the form of case reports [103][104][105] and small case series. 106 No data is available regarding the prevalence of PFIC in India.…”

Section: Progressive Familial Intrahepatic Cholestasis In Indiamentioning

confidence: 99%

Progressive Familial Intrahepatic Cholestasis

Srivastava

2014

Journal of Clinical and Experimental Hepatology

206

216

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“…There is various ultrasound nding in children with PFIC such as hepatomegaly, splenomegaly and increased echogenicity of the liver (18,19). Abdominal sonography ndings of our subjects showed liver inhomogeneous echo, splenomegaly (enlarged spleen), hepatomegaly (enlarged liver), cirrhosis, ascites, increased liver echogenicity and, and a small sized liver (in cirrhotic patients).…”

Section: Discussionmentioning

confidence: 99%

Clinical and Para Clinical Findings in Children with Progressive Familial Intrahepatic Cholestasis in Iran; A Referral Center Report

Zarenezhad¹,

Dehghani²,

Ejtehadi³

et al. 2020

Preprint

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BackgroundProgressive Familial Intrahepatic Cholestasis (PFIC) is a heterogeneous group of disorders with various clinical and para-clinical manifestations. We report clinical and para-clinical findings in children with progressive familial intrahepatic cholestasis in Southern Iran.MethodsMedical records of 102 patients aged ≤18 years old diagnosed with PFIC who referred to our referral center were evaluated from 2008 to 2012. Baseline and clinical characteristics, outcomes and survival of these patients were recorded. ResultsThe study included 61 boys and 41 girls. Most common complaints were jaundice in 53 (51.96 %), pruritus and jaundice in 15 (14.70 %) and jaundice+elevated liver enzymes in 11 (10.78%) children. Main clinical findings in children were jaundice (51.96%), ascites (28.43%), pruritus (19.60%), fever (16.66%) and encephalopathy (14.70%). Inhomogeneous echogenicity (31.37%), splenomegaly (26.47%), hepatomegaly (17.64%), cirrhosis (9.80%) and ascites (6.86%) were the most common sonography findings among children with PFIC, respectively. Histopathologic evaluation showed cirrhosis (34.31%), followed by fibrosis (18.62%), cholestasis (10.78%), inflammation of liver tissue (4.90%), nodule formation (2.94%), and destruction of lobular and vascular architecture (1.96%). Liver transplantation, medical therapy and biliary diversion had been performed for 67%, 13% and 11% of the patients, respectively. Mean (SD) PELD and MELD scores among children with PFIC were 7.14±14.63 and 15.75±7.21, respectively. Three month mortality rate for PFIC patients with end stage liver disease was 13.1%.ConclusionInhere we reported invaluable clinicopathological findings among a large series of patients with PFIC.

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“…Data from India addressing the management options employed in patients of PFIC and their outcome is scarce [6].…”

Section: Discussionmentioning

confidence: 99%

“…Liver transplantation (LT) is curative in progressive liver failure and improves quality of life due to intractable pruritus in patients with PFIC II, III and in cases of PFIC I who do not have extrahepatic manifestations [3,4]. In recent years, alternative surgical options [partial external biliary diversion (PEBD), partial internal biliary diversion (PIBD)] which divert bile salts from the enterohepatic recirculation have shown therapeutic promise in low serum gammaglutamyltransferase (GGT) PFIC [5][6][7]. In this communiqué, the authors reviewed their experience of management and outcome of PFIC patients.…”

Section: Introductionmentioning

confidence: 99%

Therapeutic Interventions in Progressive Familial Intrahepatic Cholestasis: Experience from a Tertiary Care Centre in North India

et al. 2011

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Medical therapy has limited value in managing symptoms of progressive familial intrahepatic cholestasis (PFIC). Liver transplantation (LT) is the only definite therapy for progressive liver failure and intractable pruritis. In recent years, biliary diversion (BD) has also shown therapeutic promise. This study was designed to review the experience of management and outcome of seven PFIC patients. Two children each had type II and III and three had type I/II PFIC, respectively. Medical treatment was successful in only one. Decompensated cirrhosis had already set in four children. They underwent a living related LT. There was one post transplant mortality. Remaining all children had a normal graft function at a mean follow-up of 50 months. One patient of PFIC type I/II received internal and another of PFIC type II received external BD. Both patients were asymptomatic at follow-up of 19 and 23 months respectively. Nontransplant surgical options should be offered to noncirrhotic children with PFIC.

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Progressive familial intrahepatic cholestasis: A case with improvement in liver tests and growth following partial external biliary diversion

Cited by 6 publications

References 8 publications

Progressive Familial Intrahepatic Cholestasis

Progressive Familial Intrahepatic Cholestasis

Clinical and Para Clinical Findings in Children with Progressive Familial Intrahepatic Cholestasis in Iran; A Referral Center Report

Therapeutic Interventions in Progressive Familial Intrahepatic Cholestasis: Experience from a Tertiary Care Centre in North India

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