Rare Primary Care News

Disease Profile

Nodular regenerative hyperplasia

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

US Estimated

Europe Estimated

Age of onset

Adult

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ICD-10

K76.8

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)

Miliary hepatocellular adenomatosis; Non-cirrhotic nodulation; Non-cirrhotic nodular transformation;

Categories

Digestive Diseases

Summary

Nodular regenerative hyperplasia (NRH) is a rare liver disease in which normal liver tissue transforms into multiple, small clusters (nodules) of replicating liver cells (regenerating hepatocytes).[1][2][3] It can develop in people of all ages but is more common in older adults.[2] NRH often does not cause signs or symptoms (so is likely underdiagnosed), but in some people, it leads to a type of portal hypertension called non-cirrhotic portal hypertension (NCPH).[1][4] NCPH refers to abnormally high blood pressure in the portal vein (the vein that carries blood from the intestine to the liver) that is not caused by cirrhosis (scarring of liver tissue that impairs its function). NCPH typically is less severe than portal hypertension caused by cirrhosis.[5] Symptoms of portal hypertension may include fatigue, edema, itching, jaundice, and abdominal discomfort or swelling due to fluid build-up (ascites). Complications that may develop include bleeding esophageal varices and an enlarged and overactive spleen (hypersplenism).[1][5][6] Liver function in most people with NRH remains normal (even in those who develop NCPH), and liver failure in people with NRH and NCPH is rare.[4][5]

The cause of NRH is not well-understood.[5] It is thought that the liver’s blood vessels somehow become damaged or inflamed, impairing blood flow to parts of the liver. This in turn may cause cells in adjacent parts to “overcompensate” and replicate more than they should, leading to NRH.[2][5] While some people with NRH have no known underlying health problems, NRH is often associated with rheumatic, autoimmune, hematologic (blood-related), and myeloproliferative disorders; chronic or recurrent infections; immune deficiency; or exposure to certain medications or toxins.[1][4][5] NRH may be diagnosed based on signs and symptoms (when present), liver function tests (which usually are normal), medical history (including drug or toxin exposure), imaging studies, and liver biopsy (to rule out cirrhosis).[5] Treatment for people with NCPH may involve starting medications to prevent or treat bleeding esophageal varices, stopping medications associated with NCPH, and treating underlying health conditions associated with NCPH.[5] The long-term outlook for people with NRH depends on whether an underlying health problem is present and whether NCPH and its complications develop (which cannot be predicted).[2][4][5] A small proportion of people eventually need a liver transplant.[5]

Symptoms

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
5%-29% of people have these symptoms
Portal hypertension
0001409
Do you have updated information on this disease? We want to hear from you.

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 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.

    In-Depth Information

    • 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 Nodular regenerative hyperplasia. Click on the link to view a sample search on this topic.

      References

      1. Nodular regenerative hyperplasia of the liver. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372. Accessed 12/12/2018.
      2. Ghabril M, Vuppalanchi R. Drug-induced nodular regenerative hyperplasia. Semin Liver Dis. May, 2014; 34(2):240-245. https://www.ncbi.nlm.nih.gov/pubmed/24879987.
      3. LoPiccolo J, Brener MI, Ohima K, Lipson EJ, Hamilton JP. Nodular Regenerative Hyperplasia Associated With Immune Checkpoint Blockade. Clinical Observations in Hepatology. 2018; 68(6):2431-2433. https://aasldpubs.onlinelibrary.wiley.com/doi/full/10.1002/hep.30157.
      4. Bissonnette J, Généreux A, Côté J, et al. Hepatic hemodynamics in 24 patients with nodular regenerative hyperplasia and symptomatic portal hypertension. J Gastroenterol Hepatol. August, 2012; 27(8):1336-1340. https://www.ncbi.nlm.nih.gov/pubmed/22554152.
      5. Garcia-Pagan JC, Eu JCP. Noncirrhotic portal hypertension. UpToDate. Waltham, MA: UpToDate; 2018; https://www.uptodate.com/contents/noncirrhotic-portal-hypertension.
      6. Carale J. Portal Hypertension. Medscape Reference. November 30, 2017; https://emedicine.medscape.com/article/182098-overview.