Rare Neurology News

Disease Profile

HELLP syndrome

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

O14.2

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)

Hemolysis, Elevated Liver Enzymes, Lowered Platelets

Categories

Female Reproductive Diseases

Summary

HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy.[1] It is named for 3 features of the condition: Hemolysis, Elevated Liver enzyme levels, and Low Platelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery.[2] A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures.[1][3] The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition.[1] It is most common in women with preeclampsia or eclampsia.[3] If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.[2] The main treatment is to deliver the baby as soon as possible, even if premature, if there is distress of the mother or the baby.[3][1] Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.[3]

Symptoms

Women with HELLP syndrome may feel tired, have pain in the upper right part of the belly, have bad headaches, and nausea or vomiting. They may also experience swelling, especially of the face and hands.[2][3] Vision problems may also be observed.[3] Rarely, they may have bleeding from the gums or other places.[2] 

Because healthy pregnant women may also have these symptoms late in pregnancy, it may be hard to know for sure if they are attributable to HELLP syndrome. A doctor may order blood tests to determine if these symptoms are the result of HELLP syndrome.[2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Eclampsia
0100601
Edema
Fluid retention
Water retention

[ more ]

0000969
Elevated hepatic transaminase
High liver enzymes
0002910
Hypertension
0000822
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Maternal hypertension
0008071
Preeclampsia
0100602
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Seizure
0001250
Thrombocytopenia
Low platelet count
0001873

Cause

The cause of HELLP syndrome is unclear.[2][4] Although it is more common in women who have preeclampsia or pregnancy induced hypertension (high blood pressure during pregnancy), some women develop HELLP syndrome without showing signs of these conditions.[3][5]

The following risk factors may increase a woman's chance to develop HELLP syndrome:[2][5]

  • Having a previous pregnancy with HELLP syndrome
  • Having preeclampsia or pregnancy induced hypertension
  • Being over age 25
  • Being Caucasian
  • Multiparous (given birth 2 or more times)

In less than 2 percent of women with HELLP syndrome, the underlying cause appears to be related to LCHAD deficiency in the fetus.[4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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.

    Where to Start

    • The American Pregnancy Association provides information about HELLP syndrome.
    • FamilyDoctor.org provides additional information about HELLP syndrome. Click on the link above to access this information.
    • March of Dimes has information on HELLP syndrome.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The Merck Manual provides information on this condition for patients and caregivers.
    • The Preeclampsia Foundation provides information about HELLP syndrome. The information includes the signs and symptoms of the syndrome, risks, prognosis, and more.

      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.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss HELLP syndrome. Click on the link to view a sample search on this topic.

        References

        1. Khan H. HELLP Syndrome. Medscape Reference. 2018; https://emedicine.medscape.com/article/1394126-overview.
        2. HELLP Syndrome. FamilyDoctor.org. September 27, 2017; https://familydoctor.org/familydoctor/en/diseases-conditions/hellp-syndrome.printerview.all.html.
        3. White CD. HELLP syndrome. MedlinePlus. 2018; https://www.nlm.nih.gov/medlineplus/ency/article/000890.htm.
        4. Sibai BM. HELLP syndrome. UpToDate. Waltham, MA: UpToDate; 2018;
        5. HELLP Syndrome. American Pregnancy Association. 2018; https://americanpregnancy.org/pregnancy-complications/hellp-syndrome/.
        6. Kjell Haram, Jan Helge Mortensen, and Bálint Nagy. Genetic Aspects of Preeclampsia and the HELLP Syndrome. Journal of Pregnancy. 2014; 2014:
        7. Sibai BM. HELLP syndrome. UpToDate. Waltham, MA: UpToDate; Feb 20, 2018; https://www.uptodate.com/contents/hellp-syndrome.
        8. Cavaignac-Vitalis M, Vidal F, Simon-Toulza C, Boulot P, Guerby P, Chantalat E, Parant O. Conservative versus active management in HELLP syndrome: results from a cohort study. J Matern Fetal Neonatal Med. December, 2017; 21:1-7. https://www.ncbi.nlm.nih.gov/pubmed/29228827.

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