Rare Nephrology News

Disease Profile

Hepatic encephalopathy

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

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ICD-10

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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)

Hepatoencephalopathy; Encephalopathy, hepatic

Categories

Digestive Diseases

Summary

Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.[1] Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur suddenly and severely.[2] They may include personality or mood changes, intellectual impairment, abnormal movements, a depressed level of consciousness, and other symptoms.[1][2] There are several theories regarding the exact cause, but development of the condition is probably at least partially due to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.[1]

Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Rifaximin(Brand name: Normix) Manufactured by Salix Pharmaceuticals, Inc.
    FDA-approved indication: Reduction in the risk of overt hepatic encephalopathy (HE) recurrence in patients greater than or equal to 18 years of age.
    National Library of Medicine Drug Information Portal

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

  • The Hepatitis C Support Project (HCSP) is a registered non-profit organization founded to address the lack of education, support, and services available at that time for the HCV population. HCSP's mission is to provide unbiased information, support, and advocacy to all communities affected by HCV and HIV/HCV coinfection, including medical providers. To see their Fact Sheet about hepatic encephalopathy, click here.

    Organizations Providing General Support

      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 Department of Veterans Affairs posts information discussed during a talk on hepatic encephalopathy given at the 2004 Advanced Liver Disease Training Program held in Manhattan, New York, from April 12 to 14, and sponsored by the VA Hepatitis C Resource Center Program and Hepatitis C Program Office. To view the presentation, click on the link.
      • 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 Manuals Online Medical Library provides information on this condition for patients and caregivers.
      • The National Institute on Alcohol Abuse and Alcoholism (NIAAA) conducts research focused on improving the treatment and prevention of alcoholism and alcohol-related problems to reduce the enormous health, social, and economic consequences of this disease. Click on the link to view information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Hepatic encephalopathy. Click on the link to view a sample search on this topic.

          References

          1. David C Wolf. Hepatic Encephalopathy. Medscape Reference. December 8, 2015; https://emedicine.medscape.com/article/186101-overview.
          2. Subodh K. Lal. Loss of brain function liver disease. MedlinePlus. August 14, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000302.htm.
          3. Roger F. Butterworth. Hepatic Encephalopathy. National Institute on Alcohol Abuse and Alcoholism (NIAAA). September 29, 2004; https://pubs.niaaa.nih.gov/publications/arh27-3/240-246.htm.

          Rare Nephrology News