Hypocomplementemic urticarial vasculitis

Title

Other Names:

Anti-C1q vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; Mac Duffie syndrome; Anti-C1q vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; Mac Duffie syndrome; McDuffie hypocomplementemic urticarial vasculitis; McDuffie syndrome See More

Categories:

Blood Diseases; Kidney and Urinary Diseases

Summary Summary

Hypocomplementemic urticarial vasculitis (HUV) is a rare form of vasculitis characterized by inflammation of the small blood vessels and low levels of complement proteins in the blood. HUV causes recurrent episodes of hives (urticaria) and painful skin lesions that itch or burn.^[1] Individuals with HUV may also have systemic, multiorgan involvement, causing arthritic joint pain; pulmonary (lung) disease; ocular (eye) inflammation; kidney inflammation; or various other symptoms.^[2]^[3]^[4]

Some scientists refer to the condition as HUV syndrome (HUVS) when it is more severe and there is significant systemic involvement.^[4]^[5] Other scientists call the condition HUVS in the absence of systemic disease.^[6] In some cases, the terms are used as synonyms.^[6] There appears to be controversy regarding the nomenclature and classification of HUV and HUVS, and whether they are distinct conditions or represent a continuum of the same disease.^[6]

Both genetic and environmental factors are thought to play a role in causing HUV. It generally occurs sporadically, but familial cases have been reported.^[3] It is thought to develop due to an abnormal immune system response involving specific proteins that work together to fight organisms that cause infections. In some cases HUV may be associated with an underlying infection or systemic diseases such as systemic lupus, Sjögren's syndrome, monoclonal gammopathy, or blood disorders.^[6]

There is no cure for HUV. Treatment varies depending on each person's signs and symptoms. Some cases of HUV respond to therapies commonly used for the treatment of lupus, including low-dose prednisone, hydroxychloroquine, and dapsone.^[3]

Last updated: 2/2/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Complement deficiency	Very frequent (present in 80%-99% of cases)
Pruritus	Very frequent (present in 80%-99% of cases)
Skin rash	Very frequent (present in 80%-99% of cases)
Small vessel vasculitis	Very frequent (present in 80%-99% of cases)
Angioedema	Frequent (present in 30%-79% of cases)
Arthritis	Frequent (present in 30%-79% of cases)
Autoimmunity	Frequent (present in 30%-79% of cases)
Conjunctivitis	Frequent (present in 30%-79% of cases)
Cough	Frequent (present in 30%-79% of cases)
Dyspnea	Frequent (present in 30%-79% of cases)
Episcleritis	Frequent (present in 30%-79% of cases)
Glomerulopathy	Frequent (present in 30%-79% of cases)
Hematuria	Frequent (present in 30%-79% of cases)
Hemoptysis	Frequent (present in 30%-79% of cases)
Irregular hyperpigmentation	Frequent (present in 30%-79% of cases)
Nausea and vomiting	Frequent (present in 30%-79% of cases)
Proteinuria	Frequent (present in 30%-79% of cases)
Renal insufficiency	Frequent (present in 30%-79% of cases)
Uveitis	Frequent (present in 30%-79% of cases)
Abnormality of the heart valves	Occasional (present in 5%-29% of cases)
Ascites	Occasional (present in 5%-29% of cases)
Ataxia	Occasional (present in 5%-29% of cases)
Cerebral palsy	Occasional (present in 5%-29% of cases)
Cranial nerve paralysis	Occasional (present in 5%-29% of cases)
Diarrhea	Occasional (present in 5%-29% of cases)
Emphysema	Occasional (present in 5%-29% of cases)
Hemiplegia/hemiparesis	Occasional (present in 5%-29% of cases)
Hepatomegaly	Occasional (present in 5%-29% of cases)
Immunologic hypersensitivity	Occasional (present in 5%-29% of cases)
Joint dislocation	Occasional (present in 5%-29% of cases)
Lymphadenopathy	Occasional (present in 5%-29% of cases)
Lymphoma	Occasional (present in 5%-29% of cases)
Meningitis	Occasional (present in 5%-29% of cases)
Myalgia	Occasional (present in 5%-29% of cases)
Obstructive lung disease	Occasional (present in 5%-29% of cases)
Pericardial effusion	Occasional (present in 5%-29% of cases)
Pleural effusion	Occasional (present in 5%-29% of cases)
Recurrent bacterial infections	Occasional (present in 5%-29% of cases)
Restrictive ventilatory defect	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Sensorineural hearing impairment	Occasional (present in 5%-29% of cases)
Sensory neuropathy	Occasional (present in 5%-29% of cases)
Splenomegaly	Occasional (present in 5%-29% of cases)

Last updated: 5/8/2017

Diagnosis Diagnosis

A diagnosis of HUV requires the presence of the two major criteria, as well as at least two minor criteria. The major criteria are hives (urticaria) for at least 6 months, and low levels of complement system proteins in the blood. The minor criteria are:^[7]^[3]

Inflammation in the small veins of the dermis (diagnosed by biopsy)
Joint pain or arthritis
Mild kidney inflammation (glomerulonephritis)
Eye inflammation (in the uvea or episclera)
Recurrent abdominal pain
The presence of anti-C1q antibodies (although this test is not widely available)

Additional laboratory studies may include tests for kidney function tests and immunological status. A chest x-ray should be done in individuals found to have low levels of complement system proteins and breathing problems.^[8]

Last updated: 2/2/2017

Prognosis Prognosis

The long-term outlook (prognosis) for people with HUV varies from person to person. The prognosis largely depends on severity of systemic involvement and is influenced primarily by the severity of lung (pulmonary), heart, and kidney (renal) disease.^[3] When present, pulmonary disease (COPD) is the major cause of death. Cigarette smoking itself appears to be a strong risk factor for developing lung disease with HUV.^[5] Acute swelling of the larynx (laryngeal edema) can also be life-threatening. Although HUV is uncommon in childhood, the prognosis is worse for those affected at younger ages because of more frequent, severe renal involvement.^[3]

The prognosis can also be influenced by other underlying disorders that HUV is associated with.^[5] When HUV is associated with systemic lupus, the overlap of the two disease processes may cause relatively fast progression and poor prognosis, given that either disease can end fatally. Therefore, all patients diagnosed with HUV should also be examined for lupus (and possibly vice versa).^[5]

Because the symptoms and severity of HUV vary, it is not possible to predict the life expectancy for affected individuals.

Last updated: 2/6/2017

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Hypocomplementemic urticarial vasculitis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Healthcare Resources

If your physician would like to review your case with a vasculitis specialist, the Vasculitis Foundation lists vasculitis medical consultants that may be able to speak with your healthcare provider. Click on the link above to learn more.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More 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

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.
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 Hypocomplementemic urticarial vasculitis. Click on the link to view a sample search on this topic.

News & Events News & Events

NCATS Co-Sponsored Conferences

Workshop on Systemic Vasculitis: Future Research Directions Monday, September 15, 1997
Location: NIH Campus, Bethesda, MD
Contact: Dr. Howard Dickler(301) 496-7104

Co-funding Institute(s): National Institute of Allergy and Infectious Diseases

Other Conferences

All Star Vasculitis Patient Symposium
July 30, 2010 - August 1, 2010
Location: Westin Long Beach Hotel in Long Beach, California
Description: Topics will cover all the types of vasculitis and will concentrate on the advances in medical treatments, research, and quality of life of patients. The meeting attracts vasculitis patients, family members, and medical vasculitis experts in the world.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What tests are used for hypocomplementemic urticarial vasculitis? I noticed while reading your site that hypocomplementemic urticarial vasculitis seemed to fit my symptoms. Are there tests specifically for this condition as opposed to another type of urticaria angioedema? See answer

Have a question? Contact a GARD Information Specialist.

References References

Filosto M, Cavallaro T, Pasolini G, Broglio L, Tentorio M, Cotelli M, Ferrari S, Padovani A. Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy. J Neurol Sci. 2009; http://www.ncbi.nlm.nih.gov/pubmed/19375087.
Mehregan D, Hamzavi I. Urticarial Vasculitis. Medscape. March 31, 2016; http://emedicine.medscape.com/article/1085087-overview.
Gasim AH & Jennette C. Hypocomplementemic urticarial vasculitis. Orphanet. May 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36412.
About Vasculitis. Vasculitis UK. 2015; http://www.vasculitis.org.uk/about-vasculitis/urticarial-vasculitis.
Andrew Buck,Jim Christensen, and Morgan McCarty. Hypocomplementemic Urticarial Vasculitis Syndrome. J Clin Aesthet Dermatol. January, 2012; 5(1):36-46. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277093/.
Jachiet, M et al. The Clinical Spectrum and Therapeutic Management of Hypocomplementemic Urticarial Vasculitis: Data From a French Nationwide Study of Fifty-Seven Patients. Arthritis Rheumatol. Feb 2015; 67(2):527-534. https://www.ncbi.nlm.nih.gov/pubmed/25385679.
Brewer JD, Davis MDP. Urticarial vasculitis. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2012;
Urticarial vasculitis. DermNet New Zealand. January, 2016; http://www.dermnetnz.org/topics/urticarial-vasculitis/.