Dr Jinwen He1, Dr Adam Morton1
1Mater Hospital, South Brisbane, Australia
Biography:
Jinwen is an obstetric medicine fellow at the Mater Hospital, Brisbane. She completed her MBBS at the University of Queensland, and her Masters of Medicine at the University of Sydney, as well as FRACP in endocrinology. Her interests include diabetes management, metabolic disorders and obstetric medicine.
Abstract:
Background: Case reports have established a strong association between acute fatty liver of pregnancy (AFLP) in the mother, and fetal deficiency of the enzyme long chain-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD), with the common mutation being 1528G>C (E474Q). Case reports, however, are subject to selection bias from ascertainment through an affected infant, rather than an unselected population of women with AFLP. AFLP has also been described with deficiencies in carnitine palmitoyltransferase, medium chain acyl-CoA dehydrogenase and short chain acyl-CoA dehydrogensase.
Aim: To ascertain the prevalence of the common 1528G>C (E474Q) mutation in women or their offspring following a clinical diagnosis of Acute Fatty Liver of Pregnancy
Methods: A search of Medline and Google Scholar from inception to May 2024 using the term “Acute Fatty Liver of Pregnancy” to identify case series of women who were clinically diagnosed with AFLP, and in whom genetic testing on mother and/or infant was performed. Case reports were not used.
Results: Nine case series were identified, comprising 132 pregnancies complicated by AFLP.(1-9) Diagnosis of AFLP was on the Swansea criteria in 55 pregnancies, on liver biopsy in 14 pregnancies, on the criteria of other authors in 27 pregnancies, and the criteria employed for diagnosis were not stated in 26 pregnancies. Testing of the mother and/or infant demonstrated the 1528G>C (E474Q) mutation in only five cases (3.8%).
Conclusion: AFLP is a heterogenous condition with 1528G>C (E474Q) mutation being detected in only 3.8% of affected pregnancies. Whole genome sequencing of families affected by AFLP may discover other gene variants associated with defects in fatty acid oxidation. Studies examining whether the presence of 1528G>C (E474Q) mutation is associated with more severe maternal or infant complications, or has implications for recurrence of disease in subsequent pregnancies would also be of interest.
Keywords
acute fatty liver of pregnancy, LCHAD deficiency
References
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