Abnormal transaminases in a child with congenital hypofibrinogenemia and familial hypobetalipoproteinemia

Key words: Transaminases, Hypocholesterolemia, Hypofibrinogenemia, Hypobetalipoproteinemia, Apolipoprotein B.

The article reports the case of a 32-month child, born at the 28th week of gestational age, with a slight persistent increase in AST and ALT since the 11th month of age, hypofibrinogenemia and initial growth delay. Investigations excluded common causes of transaminase alteration and showed severe hypocholesterolemia and hypotrigliceridemia and absence of apoB 100, LDL and VLDL. Biochemical findings were consistent with familial hypobetalipoproteinemia, even if known mutations of MTP and APOB genes were not found. Low fibrinogen levels were due to a rare heterozygous mutation of the FGG gene (fibrinogen Aguadilla) that is probably responsible for hepatocellular damage. The diagnostic approach to the child with abnormal transaminases was briefly summarized and two rare diseases and their possible pathogenetic linkage were reviewed