Rare Immunology News

Disease Profile

Hypocomplementemic urticarial 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

All ages

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ICD-10

M31.8

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)

Anti-C1q vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; Mac Duffie syndrome;

Categories

Blood Diseases; Kidney and Urinary Diseases

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]

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
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
Pericardial effusion
Fluid around heart
0001698
Pleural effusion
Fluid around lungs
0002202
Pulmonary obstruction
Obstructive lung disease
0006536
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
Seizure
0001250
Sensorineural hearing impairment
0000407
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Splenomegaly
Increased spleen size
0001744

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]

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

    • 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.

      References

      1. 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; https://www.ncbi.nlm.nih.gov/pubmed/19375087.
      2. Mehregan D, Hamzavi I. Urticarial Vasculitis. Medscape. March 31, 2016; https://emedicine.medscape.com/article/1085087-overview.
      3. Gasim AH & Jennette C. Hypocomplementemic urticarial vasculitis. Orphanet. May 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36412.
      4. About Vasculitis. Vasculitis UK. 2015; https://www.vasculitis.org.uk/about-vasculitis/urticarial-vasculitis.
      5. 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/.
      6. 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.
      7. Brewer JD, Davis MDP. Urticarial vasculitis. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2012;
      8. Urticarial vasculitis. DermNet New Zealand. January, 2016; https://www.dermnetnz.org/topics/urticarial-vasculitis/.

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