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Disease Profile
Cryoglobulinemic 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
D89.1
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)
Familial mixed cryoglobulinemia; Mixed cryoglobulinemia; Essential cryoglobulinemia;
Categories
Immune System Diseases; Lung Diseases
Summary
Cryoglobulinemic vasculitis occurs when the body makes a mix of abnormal
Symptoms
Signs and symptoms may include:[1][3]
- Purple spots and patches on the skin (purpura)
- Nerve damage (
peripheral neuropathy ) - Joint pain and swelling (arthralgia)
- Weakness
- Kidney problems
- Liver problems
Symptoms usually begin between ages 40 and 60. Although cryoglobulinemic vasculitis is a long-term disease, symptoms tend come and go. The severity of the symptoms can be difficult to predict, and may depend on underlying conditions. People who have
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 | ||
Circulating immune complexes | 0012224 | |
Cryoglobulinemia | 0100778 | |
Cutis marmorata | 0000965 | |
Fever | 0001945 | |
Mediastinal lymphadenopathy |
Swollen lymph nodes in center of chest
|
0100721 |
Muscle weakness |
Muscular weakness
|
0001324 |
Petechiae | 0000967 | |
Skin ulcer |
Open skin sore
|
0200042 |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
30%-79% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Arthralgia |
Joint pain
|
0002829 |
Joint inflammation
|
0001369 | |
Gangrene |
Death of body tissue due to lack of blood flow or infection
|
0100758 |
Gastrointestinal infarctions |
Death of digestive organ tissue due to poor blood supply
|
0005244 |
Glomerulopathy | 0100820 | |
Hematuria |
Blood in urine
|
0000790 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Mononeuropathy |
Single damaged nerve
|
0009831 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Sensorimotor neuropathy |
Nerve damage causing decreased feeling and movement
|
0007141 |
Splenomegaly |
Increased spleen size
|
0001744 |
Viral hepatitis | 0006562 | |
5%-29% of people have these symptoms | ||
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of blood and blood-forming |
0001871 | |
Anasarca | 0012050 | |
0000006 | ||
Chronic |
0012622 | |
Elevated serum creatinine |
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ] |
0003259 |
0000822 |
Treatment
Specialists involved in the care of someone with cryoglobulinemic vasculitis may include:
Dermatologist Neurologist - Kidney specialist
- Liver specialist
Hematologist
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
|
---|
Differential diagnoses include a wide range of systemic, infectious and neoplastic disorders, mainly autoimmune hepatitis, Sjogren's syndrome, B-cell lymphomas (see these terms), and polyarthritis.
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
-
Alliance for Cryoglobulinemia
P.O.Box 103
Barrington, NJ 08007
Telephone: 856-448-4085 or 925-315-RARE
E-mail: https://allianceforcryo.org/contact-us/
Website: https://allianceforcryo.org/ -
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/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Vasculitis Foundation provides information about Cryoglobulinemic vasculitis.
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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Cryoglobulinemic vasculitis. Click on the link to view a sample search on this topic.
References
- Roccatello D, Saadoun D, Ramos-Casals M, et al. Cryoglobulinaemia. Nat Rev Dis Primers. 2018; 4(1):11. https://pubmed.ncbi.nlm.nih.gov/30072738.
- Ramos-Casals M, Stone JH, Cid MC, Bosch X. The cryoglobulinaemias. Lancet. 2012; 379(9813):348-360. https://pubmed.ncbi.nlm.nih.gov/21868085.
- Ghetie D, Mehraban N, Sibley CH. Cold hard facts of cryoglobulinemia: updates on clinical features and treatment advances. Rheum Dis Clin North Am. 2015; 41(1):93-108. https://pubmed.ncbi.nlm.nih.gov/25399942.
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