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Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Am J Gastroenterol. 1996 Nov; 91(11):2293-300.AJ

Abstract

BACKGROUND

The similarity of the hepatic pathology in acute fatty liver of pregnancy (AFLP) to that seen in children with inherited disorders of intramitochondrial fatty acid oxidation (FAO) suggests that there may be a genetic basis for some cases of AFLP.

OBJECTIVE

The purpose of this study was to examine patients with AFLP and their offspring to determine if there were women with AFLP who were heterozygous for the FAO defect, long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.

METHODS

We evaluated 12 women previously diagnosed with AFLP. Provocative fasting studies and skin biopsies for examination of their cultured skin fibroblasts were performed to search for a generalized defect in FAO both in vivo and in vitro. Cultured skin fibroblasts from AFLP patients, their children, and their husbands were also examined specifically for LCHAD activity.

RESULTS

Of 12 women with a previous episode of AFLP, eight had reduced LCHAD activity consistent with being heterozygous for LCHAD deficiency. The eight heterozygotes had a total of nine pregnancies complicated by AFLP. In seven of those nine pregnancies, the women developed severe preeclampsia and hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Of the nine offspring delivered from these pregnancies, four were confirmed to be affected with homozygous LCHAD deficiency. Three other deceased infants were presumed to be LCHAD-deficient based on clinical findings, postmortem examination, and confirmed heterozygote parents. The remaining two infants delivered after pregnancies complicated by AFLP had LCHAD activity in the heterozygous range and are healthy at 18 and 24 months of age. Consistent with the known autosomal recessive nature of this defect, five tested husbands of LCHAD heterozygous women with a history of AFLP and affected infants also showed reduced LCHAD activity.

CONCLUSIONS

These studies indicate that a significant subgroup of women with AFLP are heterozygous for LCHAD deficiency and that careful observation of their offspring for signs of this disorder is warranted. Severe preeclampsia appears to increase the risk of AFLP in LCHAD heterozygous women.

Authors+Show Affiliations

Division of Pediatric Gastroenterology and Nutrition, Hartford Hospital, University of Connecticut School of Medicine, Farmington, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8931405

Citation

Treem, W R., et al. "Acute Fatty Liver of Pregnancy, Hemolysis, Elevated Liver Enzymes, and Low Platelets Syndrome, and Long Chain 3-hydroxyacyl-coenzyme a Dehydrogenase Deficiency." The American Journal of Gastroenterology, vol. 91, no. 11, 1996, pp. 2293-300.
Treem WR, Shoup ME, Hale DE, et al. Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol. 1996;91(11):2293-300.
Treem, W. R., Shoup, M. E., Hale, D. E., Bennett, M. J., Rinaldo, P., Millington, D. S., Stanley, C. A., Riely, C. A., & Hyams, J. S. (1996). Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. The American Journal of Gastroenterology, 91(11), 2293-300.
Treem WR, et al. Acute Fatty Liver of Pregnancy, Hemolysis, Elevated Liver Enzymes, and Low Platelets Syndrome, and Long Chain 3-hydroxyacyl-coenzyme a Dehydrogenase Deficiency. Am J Gastroenterol. 1996;91(11):2293-300. PubMed PMID: 8931405.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. AU - Treem,W R, AU - Shoup,M E, AU - Hale,D E, AU - Bennett,M J, AU - Rinaldo,P, AU - Millington,D S, AU - Stanley,C A, AU - Riely,C A, AU - Hyams,J S, PY - 1996/11/1/pubmed PY - 1996/11/1/medline PY - 1996/11/1/entrez SP - 2293 EP - 300 JF - The American journal of gastroenterology JO - Am J Gastroenterol VL - 91 IS - 11 N2 - BACKGROUND: The similarity of the hepatic pathology in acute fatty liver of pregnancy (AFLP) to that seen in children with inherited disorders of intramitochondrial fatty acid oxidation (FAO) suggests that there may be a genetic basis for some cases of AFLP. OBJECTIVE: The purpose of this study was to examine patients with AFLP and their offspring to determine if there were women with AFLP who were heterozygous for the FAO defect, long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency. METHODS: We evaluated 12 women previously diagnosed with AFLP. Provocative fasting studies and skin biopsies for examination of their cultured skin fibroblasts were performed to search for a generalized defect in FAO both in vivo and in vitro. Cultured skin fibroblasts from AFLP patients, their children, and their husbands were also examined specifically for LCHAD activity. RESULTS: Of 12 women with a previous episode of AFLP, eight had reduced LCHAD activity consistent with being heterozygous for LCHAD deficiency. The eight heterozygotes had a total of nine pregnancies complicated by AFLP. In seven of those nine pregnancies, the women developed severe preeclampsia and hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Of the nine offspring delivered from these pregnancies, four were confirmed to be affected with homozygous LCHAD deficiency. Three other deceased infants were presumed to be LCHAD-deficient based on clinical findings, postmortem examination, and confirmed heterozygote parents. The remaining two infants delivered after pregnancies complicated by AFLP had LCHAD activity in the heterozygous range and are healthy at 18 and 24 months of age. Consistent with the known autosomal recessive nature of this defect, five tested husbands of LCHAD heterozygous women with a history of AFLP and affected infants also showed reduced LCHAD activity. CONCLUSIONS: These studies indicate that a significant subgroup of women with AFLP are heterozygous for LCHAD deficiency and that careful observation of their offspring for signs of this disorder is warranted. Severe preeclampsia appears to increase the risk of AFLP in LCHAD heterozygous women. SN - 0002-9270 UR - https://www.unboundmedicine.com/medline/citation/8931405/Acute_fatty_liver_of_pregnancy_hemolysis_elevated_liver_enzymes_and_low_platelets_syndrome_and_long_chain_3_hydroxyacyl_coenzyme_A_dehydrogenase_deficiency_ L2 - http://www.diseaseinfosearch.org/result/5922 DB - PRIME DP - Unbound Medicine ER -