C1q deficiency is a rare inherited immunodeficiency disorder where the body does not produce sufficient amounts of the C1q protein, a critical component of the complement system. It is caused by genetic mutations that prevent the production of functional C1q protein, leading to impaired immune function and increased susceptibility to infections and autoimmune diseases. The Complement Component C1q blood test is the most important test for diagnosis because it directly measures C1q protein levels in the blood.
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C1q deficiency is caused by inherited genetic mutations that prevent the body from producing adequate amounts of the C1q protein. These mutations are typically passed down in an autosomal recessive pattern, meaning both parents must carry the defective gene for a child to develop the condition. The C1q protein is the first component of the classical complement pathway, and without it, the entire immune cascade is disrupted, leading to severe immune dysfunction.
The Complement Component C1q blood test is the most important test for C1q deficiency because it directly measures the levels of C1q protein in your blood. This specialized test is essential for confirming the diagnosis, as low or absent C1q levels definitively indicate the deficiency. The test helps doctors understand why you might be experiencing recurrent infections or autoimmune symptoms, as impaired complement system activation leaves your immune system compromised. Additional complement testing may be ordered to evaluate the entire complement cascade, but the C1q test is the cornerstone of diagnosis.
You should get tested if you experience recurrent bacterial infections starting in early childhood, have been diagnosed with autoimmune conditions like lupus at a young age, or have a family history of C1q deficiency. Testing is also important if you have unexplained immune system problems, frequent skin infections, or kidney disease that doctors cannot explain through other conditions. Early diagnosis through blood testing is crucial because it allows for proper immune monitoring and preventive treatment to reduce infection risk.
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What this means
Your C1q levels are slightly below the optimal range, which may indicate increased immune complex activity or mild complement consumption. While this could be normal variation, persistently low levels may be associated with autoimmune conditions or increased inflammation and should be monitored.
Recommended actions
Follow up with your healthcare provider to discuss results and any symptoms
Monitor for signs of inflammation like joint pain, swelling, or recurring infections
Maintain a balanced diet rich in anti-inflammatory foods like fatty fish, leafy greens, and berries
Consider retesting in 8-12 weeks to monitor trends and assess if levels are improving
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