Background and Aim: Ataxia-telangiectasia (AT) and ataxia-oculomotor apraxia type 2 (AOA2) are both autosomal recessive cerebellar ataxias characterized by elevated serum alpha-fetoprotein (AFP) levels. However, the source and clinical implications of this increase, as well as its relationship with liver diseases are unknown. In this study, we investigated the frequency of liver diseases and their relationship with high AFP in patients with AT and AOA2.
Material and Methods: The study involved 19 adult patients (13 patients with AT and 6 patients with AOA2) who were followed between January 1992 and March 2023. The demographic and clinical characteristics, serum levels of liver enzymes and AFP, liver imaging, and survival data were retrospectively reviewed.
Results: The mean age of patients was 26.8±5.1 years (11 men and 8 women).While 69% (9/13) of AT patients had elevated liver enzymes and 56% (5/9) had abnormal liver imaging, both were normal in all AOA2 patients.Liver enzyme elevation was associated with the presence of comorbid disease (p=0.007), but not with AFP level (p=0.33) in AT patients. Hepatosteatosis was not associated neither with comorbidity (p=0.524) nor AFP level (p=0.905) in this group. During a median follow-up of 17 (1–29) years, 5 AT patients passed away due to cancer (4 patients) and sepsis (1 patient). AFP level was not associated with the occurrence of cancer (p=0.382).
Conclusion: This study found a high prevalence of liver disease (69%) in AT, unlike in AOA, independent of AFP levels. Since comorbid diseases, especially cancer, were associated with elevated liver enzymes, adult AT patients with abnormal liver functions should be screened for the development of cancers.