Background

The following report describes a case of inherited elevation of alpha-fetoprotein (AFP) in a young male suspected for testicular cancer. AFP shows very high values during fetal life. After birth the synthesis of AFP decreases dramatically, and only trace amounts are detected in the adult. From this age on, serum AFP can rise above normal in some diseases, e.g. liver disorders, and in some kind of tumors. A condition in which persistent high levels of AFP are found, named Hereditary Persistence of AFP [HPAFP), was first reported in 1983 by Ferguson-Smith, and then recorded in the literature only on eleven occasions till 2004. The occurrence of HPAFP may be underestimated. HPAFP can be easily confirmed by testing AFP levels in blood-related family members.

Methods

An elevated serum AFP (about 20 μg/mL) was found in a 27–year-old white man with an unremarkable medical history, who was concerned to have left testicular cancer. By our examination, his left testis was markedly reduced in size. β-HCG, LDH, and liver function were normal. Surgical inguinal exploration with testis and spermatic cord excision was carried out. Postoperative repeated AFP levels remained persistently elevated, in the range from 20 to 30 μg/mL. Careful evaluation for occult cancer showed no abnormality. Histology showed necrotic tissue and could not make a reliable diagnosis. A literature search was done using PubMed by key word “alpha-fetoprotein” and “elevation”. Thinking of a hereditary trait, we decided to screen patient's blood-related family members.

Results

AFP was found to be elevated in another four out of six relatives within three generations, unrelated to any disease. This pedigree was consistent with an autosomal dominant inheritance pattern.

Conclusions

HPAFP could mislead the physician. Failure to recognize HPAFP can lead to unsuitable treatments. The existence of this clinically benign condition needs to be considered in both children and adults with unexplained and persistent elevation of AFP, e.g. those diagnosed or suspected for germ cell tumor.

Search results

High Alpha-Fetoprotein Persistence after Orchiectomy. On a Case of Uncommon Etiology

Malformazione focale oculo-encefalica