A unique association? A narcolepsy type 1 case comorbid with Primary Biliary Cholangitis

Area of Science:

• Neurology
• Hepatology
• Immunology

Background:

• Narcolepsy type 1 is a chronic neurological disorder.
• Primary Biliary Cholangitis (PBC) is a chronic autoimmune liver disease.
• The genetic association between narcolepsy type 1 and PBC is not well-established.

Purpose of the Study:

• To report a unique case of comorbid narcolepsy type 1 and asymptomatic Primary Biliary Cholangitis (PBC).
• To discuss the implications of the HLA haplotype DQB1*06:02, previously considered protective against PBC, in this dual diagnosis.

Main Methods:

• Case report of a single patient.
• Review of patient's medical history and HLA haplotype.
• Literature review on narcolepsy type 1, PBC, and their genetic associations.

Main Results:

• The patient presented with narcolepsy type 1 and asymptomatic PBC.
• The patient's HLA haplotype included DRB1*15:01, DQA1*01:02, and DQB1*06:02.
• The DQB1*06:02 allele, typically protective for PBC, was present.

Conclusions:

• This case suggests a potential link between narcolepsy type 1 and PBC, even with a seemingly protective HLA allele.
• Adults with narcolepsy type 1 should be monitored for other autoimmune conditions.
• Increased awareness and screening for PBC in narcolepsy type 1 patients are recommended.