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Disease Profile
Hypocomplementemic urticarial vasculitis
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Both genetic and
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
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 | |
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 | |
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 |
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 |
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 |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 |
Splenomegaly |
Increased spleen size
|
0001744 |
Diagnosis
- 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
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.
|
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
-
Vasculitis Foundation
P.O. Box 28660
Kansas City, MO 64188
Toll-free: 1-800-277-9474
Telephone: +1-816-436-8211
Fax: +1-816-656-3838
E-mail: https://www.vasculitisfoundation.org/contact-us-2/
Website: https://www.vasculitisfoundation.org/
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
- 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.
- Mehregan D, Hamzavi I. Urticarial Vasculitis. Medscape. March 31, 2016; https://emedicine.medscape.com/article/1085087-overview.
- Gasim AH & Jennette C. Hypocomplementemic urticarial vasculitis. Orphanet. May 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36412.
- About Vasculitis. Vasculitis UK. 2015; https://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; https://www.dermnetnz.org/topics/urticarial-vasculitis/.
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