[Hereditary persistence of alpha-fetoprotein]

Area of Science:

• Biochemistry
• Genetics
• Hepatology

Context:

• Alpha-fetoprotein (AFP) is a protein primarily produced during fetal development.
• Persistently elevated AFP levels in adults can be a marker for hepatocellular carcinoma, but can also be benign.
• Hereditary AFP persistence is a rare condition with limited documented cases globally.

Purpose:

• To report the first documented family with hereditary alpha-fetoprotein (AFP) persistence in China.
• To investigate the clinical and familial characteristics of this rare genetic condition.
• To differentiate hereditary AFP persistence from AFP elevations associated with malignancy.

Summary:

• A proband and his father exhibit persistently elevated alpha-fetoprotein (AFP) levels, with the brother also showing elevated levels.
• Extensive clinical examinations and laboratory tests ruled out primary hepatocellular carcinoma, hepatitis, and other malignancies as causes for the elevated AFP.
• The familial pattern suggests a hereditary basis for the persistent AFP elevation, representing the fourth reported family worldwide and the first in China.

Impact:

• This finding expands the understanding of benign familial hyperalphafetoproteinemia.
• It provides a crucial case for further research into the genetic basis of AFP regulation.
• Highlights the importance of considering hereditary factors in unexplained AFP elevations, particularly in differential diagnosis.