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Disease Profile

Polyarteritis nodosa

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

M30.0

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)

PAN; Periarteritis; Polyarteritis

Categories

Nervous System Diseases; RDCRN

Summary

Polyarteritis nodosa (PAN) is a blood vessel disease characterized by inflammation of small and medium-sized arteries (vasculitis), preventing them from bringing oxygen and food to organs.[1][2] Most cases occur in the 4th or 5th decade of life, although it can occur at any age.[3] PAN most commonly affects vessels related to the skin, joints, peripheral nerves, gastrointestinal tract, heart, eyes, and kidneys.[3][4] Symptoms are caused by damage to affected organs and may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and joint aches, rashes, numbness, and abdominal pain. The underlying cause of PAN is unknown. Treatment involves medicines to suppress inflammation and the immune system, including steroids.[2]

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
30%-79% of people have these symptoms
Abnormality of the kidney
Abnormal kidney
0000077
Arthralgia
Joint pain
0002829
Elevated C-reactive protein level
0011227
Fever
0001945
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Polyneuritis
0031003
Weight loss
0001824
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormality of the gastrointestinal tract
0011024
Cutis marmorata
0000965
Erythema
0010783
Hypertension
0000822
Morphological central nervous system abnormality
0002011
Pericarditis
Swelling or irritation of membrane around heart
0001701
Raynaud phenomenon
0030880
Sensory axonal neuropathy
0003390
Skin ulcer
Open skin sore
0200042
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
1%-4% of people have these symptoms
Abnormality of the eye
Abnormal eye
0000478
Cardiomyopathy
Disease of the heart muscle
0001638
Pleuritis
Inflammation of tissues lining lungs and chest
0002102

Cause

The exact cause of polyarteritis nodosa (PAN) is not known, and in most cases, no predisposing cause has been found (it is idiopathic). Many scientists believe that it is an autoimmune disease. Research has suggested that an abnormal immune response to an initial infection may trigger the development of PAN.[1] However, the reasons that many smaller arteries and capillaries are spared is not understood.[5]

Hepatitis B virus (HBV), hepatitis C, and hairy cell leukemia have been associated with some cases of PAN. In one report from France, HBV accounted for a third of the cases of PAN. HBV-related PAN typically occurs within four months after the onset of HBV infection.[5] PAN has also been seen in drug abusers (particularly those using amphetamines). It has also appeared to occur as an allergic reaction to some drugs and vaccines.[1]

The specific symptoms of PAN are due to ischemia or infarction of tissues and organs. Thickening of the walls of affected vessels causes narrowing of the inside of the vessels, reducing blood flow and predisposing to blood clots in affected vessels.[5]

Treatment

There is no cure for polyarteritis nodosa (PAN), but the disease and its symptoms can be managed. The goal of treatment is to prevent disease progression and further organ damage.[6] The exact treatment depends on the severity in each person.[7] While many people do well with treatment, relapses can occur.[6]

When the cause of PAN is unknown (idiopathic), treatment involves corticosteroids and immunosuppressive medications.[6] If there are no serious neurologic, renal, gastrointestinal, or heart symptoms, corticosteroids may initially be sufficient. For severe disease with these symptoms, cyclophosphamide may also be used. Hypertension should be treated aggressively.[7]

When PAN is related to hepatitis B, treatment often involves steroids, anti-viral medications and sometimes plasma exchange (also called plasmapheresis).[6]

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

    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

        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 Merck Manual for health care professionals provides information on Polyarteritis nodosa.
        • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
        • 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 Polyarteritis nodosa. Click on the link to view a sample search on this topic.

          References

          1. Polyarteritis nodosa. NORD. 2008; https://rarediseases.org/rare-diseases/polyarteritis-nodosa/.
          2. Polyarteritis nodosa. MedlinePlus. May 14, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/001438.htm.
          3. Polyarteritis Nodosa. The Johns Hopkins Vasculitis Center. 2016; https://www.hopkinsvasculitis.org/types-vasculitis/polyarteritis-nodosa/.
          4. Polyarteritis nodosa. Orphanet. January, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767.
          5. Peter A Merkel. Clinical manifestations and diagnosis of polyarteritis nodosa in adults. UpToDate. Waltham, MA: UpToDate; October, 2016;
          6. Polyarteritis Nodosa. Vasculitis Foundation. 2016; https://www.vasculitisfoundation.org/education/forms/polyarteritis-nodosa/.
          7. Polyarteritis Nodosa (PAN). Merck Manual. February, 2016; https://www.merckmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/vasculitis/polyarteritis-nodosa-pan?qt=Polyarteritis%20nodosa&alt=sh.
          8. Pagnoux C, Seror R, Henegar C, Mahr A, Cohen P, Le Guern V, Bienvenu B, Mouthon L, Guillevin L; French Vasculitis Study Group. Clinical features and outcomes in 348 patients with polyarteritis nodosa: a systematic retrospective study of patients diagnosed between 1963 and 2005 and entered into the French Vasculitis Study Group Database. Arthritis and Rheumatism. 2010; 62:616-626. https://www.ncbi.nlm.nih.gov/pubmed/20112401.
          9. Dana Jacobs-Kosmin. Polyarteritis Nodosa. Medscape Reference. January 12, 2016; https://emedicine.medscape.com/article/330717-overview.

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