Related Experiment Videos
Clinical and biochemical findings in progressive familial intrahepatic cholestasis
P F Whitington1, D K Freese, E M Alonso
1Department of Pediatrics, University of Chicago Pritzker School of Medicine, Illinois.
Insights
Progressive familial intrahepatic cholestasis (PFIC) presents in infants with severe itching and jaundice. Early diagnosis and surgical intervention, like biliary diversion or liver transplant, improve survival rates in pediatric patients.
Area of Science:
- Pediatric Hepatology
- Medical Genetics
- Gastroenterology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic liver diseases.
- Early diagnosis is crucial for managing symptoms like severe pruritus and jaundice in infants.
- Distinguishing PFIC from other pediatric cholestatic conditions can be challenging.
Purpose of the Study:
- To present the clinical findings in a cohort of patients with PFIC.
- To identify key clinical and biochemical markers for diagnosing PFIC.
- To evaluate the long-term outcomes of surgical management in PFIC patients.
Main Methods:
- Retrospective analysis of clinical data from 33 PFIC patients.
- Review of presenting symptoms, biochemical markers (GGT, cholesterol), and diagnostic findings.
- Assessment of treatment outcomes, including partial biliary diversion and liver transplantation.
Main Results:
- PFIC symptoms typically manifest before 6 months of age, characterized by severe pruritus and jaundice.
- Lower gamma-glutamyl transpeptidase (GGT) and cholesterol levels can aid in differentiating PFIC.
- Successful surgical treatments led to survival in 26 out of 33 patients, with a mean age of 12.9 years.
Conclusions:
- PFIC requires early recognition and intervention for improved patient outcomes.
- Surgical management, including biliary diversion and liver transplantation, offers significant survival benefits.
- Autosomal recessive inheritance is likely, underscoring the importance of genetic counseling.
Abstract:
The clinical findings in 33 patients with progressive familial intrahepatic cholestasis (PFIC) are presented. Symptoms developed almost invariably before 6 months of age with severe pruritus and moderate jaundice. Other clinical findings included wheezing and nosebleeds, fat-soluble vitamin deficiency states, and cholelithiasis. Lower values for gamma-glutamyl transpeptidase, averaging 15 IU/L before the administration of phenobarbital, and cholesterol, which averaged 156 mg/dl, are helpful in distinguishing PFIC from other pediatric cholestatic liver diseases. Autosomal recessive inheritance is probable. Twenty-six patients are alive at 12.9 +/- 6.7 years of age, all having had successful surgical treatment, either partial biliary diversion (n = 17) or orthotopic liver transplantation (n = 10). Seven patients died at a mean age of 3.9 +/- 2.4 years, as a result of liver failure in two, hepatocellular carcinoma in two, and complications of liver transplantation in three.