Byler disease associated with acute cholecystitis

Area of Science:

• Hepatology
• Genetics
• Pediatric Gastroenterology

Background:

• Byler disease is a rare inherited liver disorder with a reported incidence of 1 in 90,000.
• The condition is characterized by progressive familial intrahepatic cholestasis.
• Early diagnosis and management are crucial for patient outcomes.

Observation:

• A 21-year-old female patient with a history of Byler disease since childhood presented with acute cholecystitis.
• The patient underwent a laparoscopic cholecystectomy for the condition.
• This case represents a rare instance of long-term survival into the third decade of life for Byler disease.

Findings:

• This is the second reported case of Byler disease survival beyond the second decade of life.
• It is the first documented case of Byler disease associated with acute cholecystitis managed successfully via laparoscopic cholecystectomy.
• The successful surgical intervention highlights potential therapeutic avenues for complications.

Implications:

• This case expands the understanding of Byler disease's long-term prognosis and potential complications.
• Successful laparoscopic cholecystectomy in a Byler disease patient suggests a viable treatment option for acute cholecystitis in this population.
• Further research into the management of biliary complications in Byler disease is warranted.