Investigation of Infants born to Mothers with HELLP Syndrome and Acute Fatty Liver of Pregnancy

Reviewed by Carl Kuschel, Callum Wilson (Metabolic Paediatrician), and Dianne Webster (National Testing Centre)

August
2001

Introduction

An association has been demonstrated between long chain 3-hydroxyacyl-CoA-dehydrogenase (LCHAD) deficiency and maternal HELLP (Haemolysis, Elevated Liver enzymes, Low Platelets) and AFLP (Acute Fatty Liver of Pregnancy). This inherited, autosomal recessive abnormality of fatty acid oxidation can result in significant morbidity and mortality in infants if untreated. Treatment with dietary manipulation is possible.

Approximately 80% of infants with LCHAD diagnosed in childhood have been born after pregnancies complicated by AFLP or HELLP. However, what is not known is how many pregnancies complicated by AFLP or HELLP result in infants with LCHAD deficiency.

In view of the association, and the implications of detecting this condition early and providing appropriate dietary and genetic advice, we recommend the following:

Guidelines for Screening

In pregnancies complicated by the HELLP syndrome or AFLP,

Take the Newborn Screening Card at the usual time
Send a specific lab form request with the screening card requesting Acylcarnitine levels for detection of possible LCHAD deficiency.
This will be processed by the National Testing Centre laboratory

A thorough family history is important. Infants should be observed for hypoglycaemia in the early newborn period.

If babies are symptomatic and LCHAD is considered a likely diagnosis, requests should be marked as urgent.

Discuss with Dr Callum Wilson, Metabolic Paediatrician, if there are any clinical concerns.

References

1	Ibdah JA, Yang Z, Bennett MJ. Liver disease in pregnancy and fetal fatty acid oxidation defects. Molecular Genetics and Metabolism 2000; 71:182-9.
2	Ibdah JA, Bennett MJ, Rinaldo P, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999; 340:1723-31.