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Disease Profile

Acute fatty liver of pregnancy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

O26.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

AFLP; Acute fatty liver, gestational

Categories

Digestive Diseases; Female Reproductive Diseases

Summary

Acute fatty liver of pregnancy (AFLP) is a rare and serious complication of pregnancy. It is characterized by a build-up of fat in the liver, which can lead to liver damage. The cause of AFLP is not well understood, but genetics may play a role. Symptoms generally begin in the third trimester and may include persistent nausea and vomiting, pain in the stomach or upper-right abdomen, malaise, jaundice and headache. Without prompt treatment, AFLP can lead to coma, organ failure or death of the mother and baby. Treatment involves stabilizing the mother and delivery of the baby.[1][2]

Symptoms

Symptoms of acute fatty liver of pregnancy (AFLP) typically develop during the third trimester of pregnancy.[1][2]They may resemble those seen in HELLP syndrome.[1] Pregnant women who experience any of these symptoms should immediately contact their healthcare provider:[1][2] 

Cause

The cause of acute fatty liver of pregnancy (AFLP) is not fully understood.[1][2] Genetics may play a role.[1] Recent studies indicate that AFLP may be the result of a mitochondrial dysfunction in the oxidation of fatty acids in the liver. More specifically, there may be a deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme used to break down long chain fatty acids.[2] Babies with this deficiency can develop life-threatening liver, heart and neuromuscular problems unless they are started on a special low-fat formula. For this reason, it has been suggested that babies born to women with AFLP be tested for fatty acid oxidation disorders.[1] Although the risk of AFLP in subsequent pregnancies is unknown, it can occur in future pregnancies, even if testing for long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is negative.[2]

Diagnosis

The diagnosis of acute fatty liver disease of pregnancy (AFLP) is usually made based on clinical findings, includng setting, presentation, and laboratory and imaging results. Laboratory tests that may be helpful include serum aminotransferases, serum bilirubin, coagulation studies, electrolytes, serum glucose, uric acid levels, creatinine and white blood count. Imaging tests are used primarily to exclude other diagnoses.[3] Liver biopsy is diagnostic, but not always possible during pregnancy.[3][2]

Treatment

Treatment of acute fatty liver of pregnancy (AFLP) involves stabilizing the mother and delivery of the baby.[1][2][3] Detailed information about management of both mother and baby is available through Medscape Reference.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Acute fatty liver of pregnancy. Click on the link to view a sample search on this topic.

    References

    1. Liver disorders. March of Dimes. 2014; https://www.marchofdimes.org/pregnancy/liver-disorders.aspx. Accessed 8/25/2014.
    2. Finke A. Acute Fatty Liver of Pregnancy. University of Rochester Medical Center Health Encyclopedia. 2014; https://www.urmc.rochester.edu/Encyclopedia/Content.aspx?ContentTypeID=90&ContentID=P02465. Accessed 8/25/2014.
    3. Bacq Y, Lee RH. Acute fatty liver of pregnancy. UpToDate. August 11, 2014; Accessed 8/25/2014.

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