[Recurrent benign familial intrahepatic cholestasis].

Area of Science:

• Hepatology
• Gastroenterology
• Internal Medicine

Background:

• Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of jaundice with obstructive features.
• First described three decades ago, fewer than 60 cases have been documented in the literature.
• The exact etiology remains obscure, but familial occurrences suggest a possible constitutional or genetic basis.

Observation:

• This report details a young male patient experiencing two distinct episodes of obstructive jaundice.
• Hepatitis serologic tests were negative, and liver biopsy showed severe intrahepatic cholestasis without inflammatory changes or lobular architectural distortion.
• While family investigations were negative, parental consanguinity was noted, hinting at a potential genetic factor.

Findings:

• Clinical, biochemical, and histological findings strongly indicate intermittent intrahepatic cholestasis as the cause of jaundice.
• Common causes of intrahepatic cholestasis, such as viral hepatitis and drug toxicity, were excluded.
• The patient's presentation aligns with the characteristics of benign recurrent intrahepatic cholestasis.

Implications:

• This case underscores the importance of considering BRIC in the differential diagnosis of recurrent obstructive jaundice, even in the absence of typical risk factors.
• The potential genetic component warrants further investigation into the underlying mechanisms of this rare condition.
• Accurate diagnosis of BRIC is crucial to rule out other serious liver diseases and manage patient care effectively.