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

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Complement deficiency		0004431
Pruritus	Itching Itchy skin Skin itching [ more ]	0000989
Skin rash		0000988
Small vessel vasculitis		0011944
30%-79% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Angioedema		0100665
Arthritis	Joint inflammation	0001369
Autoimmunity	Autoimmune disease Autoimmune disorder [ more ]	0002960
Conjunctivitis	Pink eye	0000509
Cough	Coughing	0012735
Dyspnea	Trouble breathing	0002094
Episcleritis	Inflammation of the thin layer on top of the white part of eye	0100534
Glomerulopathy		0100820
Hematuria	Blood in urine	0000790
Hemoptysis	Coughing up blood	0002105
Irregular hyperpigmentation		0007400
Nausea and vomiting		0002017
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Uveitis		0000554
5%-29% of people have these symptoms
Abnormal heart valve morphology		0001654
Ascites	Accumulation of fluid in the abdomen	0001541
Ataxia		0001251
Cerebral palsy		0100021
Cranial nerve paralysis		0006824
Diarrhea	Watery stool	0002014
Emphysema		0002097
Hemiplegia/hemiparesis	Paralysis or weakness of one side of body	0004374
Hepatomegaly	Enlarged liver	0002240
Immunologic hypersensitivity		0100326
Joint dislocation	Joint dislocations Recurrent joint dislocations [ more ]	0001373
Lymphadenopathy	Swollen lymph nodes	0002716
Lymphoma	Cancer of lymphatic system	0002665
Meningitis		0001287
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Obstructive lung disease		0006536
Pericardial effusion	Fluid around heart	0001698
Pleural effusion	Fluid around lungs	0002202
Recurrent bacterial infections	Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ]	0002718
Reduced tendon reflexes		0001315
Restrictive ventilatory defect	Stiff lung or chest wall causing decreased lung volume	0002091
Seizures	Seizure	0001250
Sensorineural hearing impairment		0000407
Sensory neuropathy	Damage to nerves that sense feeling	0000763
Splenomegaly	Increased spleen size	0001744

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2019

Do you have updated information on this disease? We want to hear from you.

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

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The relationship of HUV to systemic lupus erythematosus (SLE) is complex with many overlapping features (manifestations of HUV are present in 10% of SLE patients and 50% of patients with HUV will later be diagnosed as having SLE). Other syndromes such as mixed cryoglobulinemia, Muckle-Wells syndrome, Cogan syndrome and Schnitzler syndrome should be excluded (see these terms). Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

The relationship of HUV to systemic lupus erythematosus (SLE) is complex with many overlapping features (manifestations of HUV are present in 10% of SLE patients and 50% of patients with HUV will later be diagnosed as having SLE). Other syndromes such as mixed cryoglobulinemia, Muckle-Wells syndrome, Cogan syndrome and Schnitzler syndrome should be excluded (see these terms).

Visit the Orphanet disease page for more information.

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 related to 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.

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.

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.

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/.