Cryoglobulinemia, pronounced "kry-oh-glob-u-lih-NE-me-uh," is a condition where blood contains abnormal amounts of certain proteins (antibodies) and which results in adverse and severe health effects. Cryoglobulinemia affects the blood plasma, which comprises more than half of the content of human blood. Cryoglobulinemia continues to confound researchers regarding how it arises and progresses.
Definition & Facts
Cryoglobulinemia primarily affects adults that are over the age of 50. It is considered to be one of several diseases grouped together under the umbrella of vasculitis, which describes inflammation or damage of the blood vessels in the body. Cryoglobulins are abnormal blood proteins.
The word "cryoglobulinemia" can be separated out into "cryoglobulin" and "emia." Cryoglobulins are irregular blood proteins. The word "cryoglobulinemia" itself translates to mean "cold antibodies in the blood." The coldness refers to the tendency of cryoglobulins to solidify at lower temperatures. In more extreme cases of the condition, this can cause the blood itself to become thick and syrupy (one analogy used is maple syrup).
Symptoms & Complaints
- Problems breathing.
- Areas of dead skin.
- Kidney damage that leads to acute kidney failure.
- Painful, burning, itching purple patches on skin (purpura).
- Ulcers on skin.
- Joint pain and muscle pain.
- Raynaud's phenomenon (blocked blood flow to extremities in cold temperatures).
- Gastrointestinal pain or abdominal swelling.
- Nerve damage (neuropathy) and/or weakness in extremities.
- Brain damage and heart damage that can result in heart attack or stroke.
The most severe symptoms are estimated to affect less than 1 in every 10 individuals diagnosed with cryoglobulinemia.
There are three types of cryoglobulinemia. The type is connected to which kind of antibody is causing the disease. They include:
- Type I. Typically caused by an underlying diagnosis of cancer or a weakened immune system.
- Type II & Type III ('mixed' cryoglobulinemia). Typically related to an underlying hepatitis C infection caused by the hepatatis C virus (HCV) or a long-term autoimmune disease. These two types constitute the vast majority of cases.
Diagnosis & Tests
The physician will first take a medical history and ask for a list of symptoms. Upon symptom presentation, they will try to determine if there are any underlying diseases that cause cryoglobulinemia such as infection with HCV or an underlying autoimmune disorder. A hepatitis C antibody test will be conducted to detect the presence of antibodies produced by the body in response to hepatitis C infection.
Since cryoglobulinemia is fundamentally a disease of the blood, health care professionals will request blood tests. These will test for the presence of cryoglobulins; however, the cryoglobulins test is known to return false negatives. Additional blood tests may also be ordered as follows:
- Complete blood count (CBC) to measure overall white blood cell/red blood cell count plus hemoglobin.
- Complement assay blood test to measure protein in the blood serum.
- Liver function tests.
- Rheumatoid factor (will be positive for individuals with Type II or III).
- Serum protein electrophoresis
- Erythrocyte sedimentation rate or ESR to measure body inflammation.
Often a skin biopsy and/or kidney biopsy will be taken. The skin biopsy will look for nerve damage or skin inflammation and the kidney biopsy will look for a particular type of tissue inflammation called membranoproliferative glomerulonephritis or MPGN for short. Further tests include:
- Urinalysis tests for the presence of blood in the urine (this indicates kidney damage).
- Angiogram to test for artery health and function.
- Chest X-ray.
- Nerve conduction study to test nerve function.
Combining test results is often required to obtain a firm diagnosis for cryoglobulinemia.
Treatment & Therapy
Once cryoglobulinemia is confirmed, treatment can begin. The type of treatment recommended will depend on two factors: the type of cryoglobulinemia (Type I, II, III) and the severity of symptoms. For mild cases, staying warm is often the best treatment. For cases linked to infection by the HCV virus, treating hepatitis C is the recommended best course of action.
For more severe cases of cryoglobulinemia where major organs or whole body systems are compromised, there are certain medications that can be prescribed, including these:
- Corticosteroids can suppress the immune system response.
- Rituximab or cyclophosphamide can destroy compromised B cells
For Type I cases of cryoglobulinemia that are linked to cancer, treatment of the underlying cancer is necessary.
A procedure called plasmapheresis can also be performed. In this treatment, the plasma is removed from the body and the abnormal antibodies are removed. Then the plasma is reintroduced into the body or replaced with donated plasma, protein, or fluids.
There are some possible complications that can arise once an individual has been diagnosed with cryoglobulinemia, including heart disease, infected skin ulcers, gastrointestinal bleeding, acute liver failure or kidney failure and even death, but these complications are relatively rare.
So long as treatment is provided promptly and continued for as long as deemed medically necessary, the long-term outlook for individuals with cryoglobulinemia is considered to be very good. But in cases where the kidneys are compromised, the outlook is less promising. In these cases, kidney dialysis or a kidney transplant may be a necessary component of long-term treatment.
Prevention & Prophylaxis