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Genetic and Rare Diseases Information Center (GARD)

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Your Question

What is cryoglobulinemia?  How is it diagnosed?  How might it be treated?  What are the expected outcomes for individuals with cryoglobulinemia?  How common is it? 

Our Answer

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What is cryoglobulinemia?

Cryoglobulinemia is a condition that can affect blood vessels throughout the body. This condition is caused by the presence of abnormal proteins in the blood called cryoglobulins. These abnormal proteins become solid in cold temperatures and block blood flow. Symptoms may include difficulty breathing, tiredness, glomerulonephritis, joint and muscle pain, purpura, Raynaud's phenomenon, skin ulcers, and skin death.[1]
Last updated: 1/23/2012

How is cryoglobulinemia diagnosed?

Cryoglobulinemia can be diagnosed by certain blood tests, examining a sample of skin (skin biopsy), urine tests (urinalysis, particularly to look for blood in the urine), taking images of the arteries (angiogram), a chest x-ray, and/or testing the funtion of the nerves in the arms or legs. [1]
Last updated: 9/27/2010

How might cryoglobulinemia be treated?

The treatment for cryoglobinemia depends on the cause and severity of this condition.  Avoiding cold temperatures may be enough to treat mild cases.  Severe cases may be treated by taking medication to reduce the body's immune response (corticosteroids), by removing some of the blood and replacing it with fluid or donated blood (a process called plasmapheresis), or by specifically treating diseases that may cause cryoglobulinemia (such as hepatitis C). [1]
Last updated: 9/27/2010

What are the expected outcomes for individuals with cryoglobulinemia?

Cryoglobulinemia is usually not deadly.  The outcome usually depends on the disease causing cryoglobulinemia as well as each person's response to treatments.  The outcome is not as good when a person's kidneys are affected. [1]
Last updated: 9/24/2010

How common in cryoglobulinemia?

Cryoglobulinemia is estimated to affect 1 in 100,000 individuals. [2]
Last updated: 9/24/2010