Rare Cardiology News

Disease Profile

Cryoglobulinemic 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

D89.1

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)

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 immune system proteins called cryoglobulins. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. When symptoms occur, they may include purplish discolored skin (purpura), weakness, joint pain, liver disease, and kidney problems. The underlying cause is unknown. Cryoglobulinemic vasculitis is typically associated with a chronic hepatitis C virus (HCV) infection. It is diagnosed based on the results of a clinical exam and the presence of cryoglobulins in the blood. Treatment varies based on the severity of symptoms and any underlying conditions.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with cryoglobulinemic vasculitis. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

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 organ involvement tend to have more severe disease.[2]

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
Arthritis
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
Proteinuria
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 tissues
0001871
Anasarca
0012050
Autosomal dominant inheritance
0000006
Chronic kidney disease
0012622
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine

[ more ]

0003259
Hypertension
0000822

Cause

The cause of cryoglobulinemic vasculitis is unknown. It occurs mainly in people with a chronic hepatitis C infection. Other viral, bacterial, and fungal infections have also been associated with cryoglobulinemic vasculitis.[1][2]

Diagnosis

Cryoglobulinemic vasculitis can be diagnosed based on a clinical history and exam, the symptoms, and testing to look for cryoglobulins in the blood.[1][2]

Treatment

Treatment of cryoglobulinemic vasculitis is focused on the underlying disease and managing the symptoms. Treatment options include medications that suppress the immune system and antivirals.[1][2][3]

Specialists involved in the care of someone with cryoglobulinemic vasculitis 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

    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

          1. 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.
          2. Ramos-Casals M, Stone JH, Cid MC, Bosch X. The cryoglobulinaemias. Lancet. 2012; 379(9813):348-360. https://pubmed.ncbi.nlm.nih.gov/21868085.
          3. 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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