Rare Endocrinology News

Disease Profile

ANCA-associated vasculitis

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)

AAV; Anti-neutrophil cytoplasmic antibody-associated vasculitis; Antineutrophil cytoplasmic antibody-associated vasculitis

Summary

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of diseases (granulomatosis with polyangiitiseosinophilic granulomatosis with polyangiitis and microscopic polyangiitis), characterized by destruction and inflammation of small vessels.[1] The clinical signs vary and affect several organs, such as the kidney, stomach, intestine, and lung. Skin lesions, such as purpura and urticaria, result when blood from small vessels leaks under the skin. AAV occurs when neutrophils attack small and medium vessels of the body. The underlying reason for this remains unclear.[2][3] Treatment includes cyclophosphamide, glucocorticoids and other autoimmune drugs such as rituximab.[1][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.

    In-Depth Information

    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

      Videos/Presentations

      • Dr. Ronald Falk presented the annual NIH Astute Clinician Lecture in November 2016 at the NIH Clinical Center. Falk discussed Anti-Neutrophil Cytoplasmic Autoantibodies (ANCA) vasculitis in his lecture titled, "Perspective on Autoimmunity: A View from the ANCA Vasculitis Looking Glass." The lecture is for medical professionals, but may be of interest to anyone who is looking for detailed information on ANCA vasculitis.

        References

        1. Lazarus B, John GT, O’Callaghan C & Ranganathan D. Recent advances in anti-neutrophil cytoplasmic antibody-associated vasculitis. Indian Journal of Nephrology. 2016; 26(2):86–96. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795442/.
        2. Millet A, Pederzoli-Ribeil M, Guillevin L, Witko-Sarsat V & Mouthon L. Antineutrophil Cytoplasmic Antibody-Associated Vasculitides. Is It Time to Split up the Group?. Ann Rheum Dis. 2013; 72(8):1273-1279. https://www.medscape.com/viewarticle/809119.
        3. What is ANCA Associated Vasculitis (AAV). ANCA associated vasculitis Foundation. https://www.vasculitisfoundation.org/mcm_faq/in-anca-associated-vasculitis-including-granulomatosis-with-polyangiitis-wegeners-gpa-and-microscopic-polyangiitis-mpa-do-increases-in-the-anca-tests-predict-disease-relapse/.
        4. Santana ANC, Viktoria W, Radu HAS & Carmen BSV. Treatment of antineutrophil cytoplasmic antibody-associated vasculitis: update. J. bras. pneumol. December, 2011; 37( 6 ):809-816. https://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132011000600016&lng=en.