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Investigating ACOX2 Deficiency as Aetiology of Hypertransaminasemia in the Catalan Population: An Epidemiological Study.

Research Leader:

Marta Alonso-Peña, Javier Crespo

Institution:

Valdecilla Biomedical Research Institute (IDIVAL), Head of the Digestive Service, Marqués de Valdecilla University Hospital

BACKGROUND

Hypertransaminasemia is a frequent finding in routine laboratory tests. However, according to studies developed in Italy, the cause of up to 15% of all cases of persistent hypertransaminasemia in adults is unknown. ACOX2 deficiency-associated hypertransaminasemia is a recently discovered condition resulting from an autosomal recessive genetic alteration in bile acid synthesis. Affected patients present recurrent and asymptomatic hypertransaminasemia, without pathological findings of interest in liver biopsies. Currently, five affected families carrying ACOX2 c.673C>T variant have been identified in Spain. Moreover, in some of the homozygous individuals, hepatobiliary alterations such as cholelithiasis and absence of hypertransaminasemia have been observed. The burden of the disease, the prevalence of the risk alleles in Spanish population, its penetrance and variable expressivity is unknown.

HYPOTHESIS

The new data found for ACOX2 deficiency-associated hypertransaminasemia may suggest that conversely to current consideration as a rare disease, it may underdiagnose, in light of low penetrance, unpredictable expression, as well as the potential benign course.

OBJECTIVES

Globally, we aimed at recognizing the prevalence of ACOX2 deficiency associated hypertransaminasemia and its clinical relevance. It can be broken down into the following specific aims: i) to study the burden of hypertransaminasemia in the Catalan population, its main aetiologies and the prevalence of idiopathic hypertransaminasemia; ii) to estimate the allele frequency of ACOX2 c.673C>T variant in the Catalan population; iii) to evaluate the relationship of the presence of ACOX2 c.673C>T variant with the occurrence of recurrent hypertransaminasemia and the development of other cholestatic and hepatobiliary alterations.