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Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children
A F Kagalwalla1, A R Al Amir, A Khalifa
1Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.
Insights
Progressive familial intrahepatic cholestasis (PFIC) in Arab children presents early with jaundice and pruritus. This study establishes its autosomal recessive inheritance and highlights key clinical and biochemical features, with most patients surviving into childhood.
Area of Science:
- Pediatrics
- Genetics
- Hepatology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders affecting bile flow.
- Byler's disease is a severe form of PFIC with early onset and significant morbidity.
- Understanding the specific characteristics of PFIC in different ethnic populations is crucial for diagnosis and management.
Purpose of the Study:
- To describe the clinical, biochemical, and histological features of PFIC in six Arab children.
- To establish the mode of inheritance for PFIC in this cohort.
- To report on the long-term outcomes of affected children.
Main Methods:
- Case series describing six Arab children diagnosed with PFIC.
- Clinical data collection including symptoms, developmental milestones, and physical examination findings.
- Biochemical tests (gamma-glutamyl-transpeptidase, cholesterol, total bile acids) and liver histology were analyzed.
Main Results:
- All patients presented with early-onset jaundice and pruritus (within 3 months).
- Common features included growth failure, developmental delay, ataxia, and epistaxis; gallstones were also noted.
- Elevated total bile acid levels were consistent, while gamma-glutamyl-transpeptidase and cholesterol were normal. Histology showed hepato-canalicular cholestasis without bile duct proliferation.
- Autosomal recessive inheritance was established.
Conclusions:
- PFIC in Arab children, consistent with Byler's disease, exhibits early onset and specific clinical/biochemical profiles.
- The autosomal recessive inheritance pattern is confirmed in this population.
- Despite severe early symptoms, a significant proportion of patients remain alive with appropriate follow-up.
Abstract:
The clinical, biochemical and histological characteristics in six Arab children with progressive familial intrahepatic cholestasis (PFIC) (Byler's disease) are described. The autosomal recessive mode of inheritance is established. Jaundice and pruritus were early symptoms, with onset in the 1st 3 months in all patients. Other features included growth failure, developmental delay, ataxia, areflexia, gall-stones and epistaxis. Gamma-glutamyl-transpeptidase and cholesterol were normal, but total bile acid levels were uniformly elevated in all patients. Histology showed features of hepato-canalicular cholestasis, lack of bile duct proliferation and fibrosis or cirrhosis in all patients. Five patients who were followed up were alive at a mean age of 75.8 months.