Researchers found a potential association between long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency and acute fatty liver of pregnancy (AFLP), as published in the American Journal of Obstetrics and Gynecology.
Previous reports have identified LCHAD deficiency, a type of long chain fatty acid oxidation disorder (LCFAOD), as a putative cause of AFLP, though the nature of the association remains largely unknown.
“Women who carried an LCHAD deficient fetus may be at risk to develop AFLP,” the researchers wrote in an abstract to be presented on February 4, 2022, at the Society for Maternal-Fetal Medicine’s 42nd Annual Pregnancy Meeting, being held virtually.
In the present study, Araji et al conducted a systematic literature review to further explore the association. They identified 6 publications with a total of 10 case reports of relevance (no time, language, or study design limitations were established for study selection).
Read more about LCFAOD overview
Most (90%) cases of AFLP were diagnosed earlier than week 37 of gestational age. Genetic testing showed that all pregnant women were heterozygous for LCHAD deficiency. Six of the women gave birth to a child who was homozygous for LCHAD deficiency, while the other 4 had a child who was compound heterozygous for LCHAD deficiency.
The acylcarnitine profile performed in 2 pregnant women showed abnormal results. The authors recognized that the literature is still limited and that additional investigation is necessary.
Important steps would be to assess acylcarnitine species in the maternal blood and the identification of the LCHAD deficiency variants that may be associated with AFLP, they said.
LCHAD deficiency is caused by a mutation in the HADHA gene, which encodes an enzyme of the trifunctional protein complex. Enzymes in this complex are involved in long-chain fatty acid metabolism inside the mitochondria.
Araji S, Varotsis D, Kirmze B, Al-Kouatly HB. AFLP and LCHAD deficiency – a systematic literature review. Am J Obstet Gynecol. 2022;226(1):S554. doi:10.1016/j.ajog.2021.11.917