Non-tumoral elevation of alpha-fetoprotein (AFP) : a 10 year follow-up in two subjects

Elevation of serum alpha-fetoprotein (AFP) in the absence of any liver disease or malignancy, likely of genetic origin, is an uncommon observation which may be the source of diagnostic dif- ficulties in routine clinical practice, especially in cases without available familial data. Animal studies suggest that the anomaly may be related to a mutation located in a regulatory gene different from that mapped for AFP. The transmission pattern of the defect is unknown with a strong suggestion for an autosomal dominant inheritance. We report the cases of two patients in whom a stable elevation of unknown origin of the tumoral marker for up to 10 years, has been observed in the absence of any detectable liver and/or malignancy and in whom the lack of familial data was the source of diagnostic difficulties. (Acta gastroenterol. belg., 2002, 65, 179-181).