A recent study published in Frontiers in Pediatrics reported a rare case of primary biliary cholangitis (PBC) with features of autoimmune hepatitis in an adolescent with a genetic defect.
While PBC is an autoimmune disease in which a person’s immune system attacks little bile ducts inside their liver, autoimmune hepatitis is marked by the immune system attacking cells that make up the liver tissue.
The patient, a 19-year-old male adolescent with multiple birth defects and an intellectual disability, experienced skin itchiness paired with abnormal levels of liver enzymes for over five years. In particular, liver enzymes that indicate its functional state such as aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, and gamma-glutamyl transpeptidase were all elevated.
“PBC with autoimmune hepatitis features has rarely been reported in an adolescent with a chromosomal abnormality. The present case can increase awareness for early-onset PBC and its possible correlation with chromosomal defects,“ the study authors wrote.
A chromosome is a structure that contains densely packed genetic material located within a person’s cells. Any minor or major changes in the number or anatomy of chromosomes can manifest as disease. In this case, the researchers reported on a case of an adolescent with missing chromosome parts, called 14q24.1q24.2 deletion.
Read more about PBC causes and risk factors
The doctors initially ran tests for liver inflammation caused by viruses and rare diseases such as alpha-1 antitrypsin deficiency, Wilson’s disease, and genetic liver diseases marked by bile flow obstruction. After all tests came back negative, the doctors performed a liver biopsy: they inserted a long needle into the patient’s liver and took a small tissue sample for analysis under the microscope.
The liver biopsy results led to the diagnosis of stage four PBC. However, the patient’s microscopic tissue structures also showed signs of autoimmune hepatitis in addition to signs of PBC. After detailed and advanced genetic tests were performed to evaluate the birth malformations, a 3.89 Mb 14q24.1q24.2 deletion was detected.
The patient was successfully treated with a combination of ursodeoxycholic acid and steroid medications.
