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Disease Profile
Simple cryoglobulinemia
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.
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Age of onset
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ICD-10
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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)
Cryoglobulinemia type 1
Categories
Immune System Diseases
Summary
Simple cryoglobulinemia occurs when the body makes an abnormal
Symptoms
Signs and symptoms may include:[4]
- Purple spots and patches on the skin (purpura)
- Skin ulcers
- Nerve damage (
peripheral neuropathy ) - Numbness or tingling of the fingers and/or toes (Raynaud's phenomenon)
- Joint pain and swelling (arthralgia)
- Kidney problems
The severity of the symptoms can be difficult to predict, and may depend on underlying conditions. People who have kidney and nervous system involvement tend to have more severe disease. In rare cases, symptoms of simple cryoglobulinemia can be life-threatening.[2][4]
Cause
In some cases, cryoglobulinemia occurs in someone with no underlying health condition. In these cases, it is known as essential or idiopathic cryoglobulinemia.[1]
Treatment
Specialists involved in the care of someone with simple cryoglobulinemia may include:
Dermatologist Neurologist - Kidney specialist
- Liver specialist
Hematologist
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
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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
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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 Simple cryoglobulinemia.
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.
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.
- Sidana S, Rajkumar SV, Dispenzieri A, et al. Clinical presentation and outcomes of patients with type 1 monoclonal cryoglobulinemia. Am J Hematol. 2017; 92(7):668-673. https://pubmed.ncbi.nlm.nih.gov/28370486.
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