Complement Component 4 Deficiency Blood Test

What is Complement Component 4 Deficiency?

Complement Component 4 Deficiency is a rare genetic disorder that impairs the immune system's ability to fight infections and clear immune complexes. It is caused by genetic mutations that prevent the body from producing adequate amounts of the C4 protein, a critical component of the complement system. The Complement Component C4c blood test is the most important test for diagnosis because it directly measures C4 protein levels in the blood.

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What causes Complement Component 4 Deficiency?

Complement Component 4 Deficiency is caused by genetic mutations in the C4A and C4B genes that prevent the body from producing adequate amounts of the C4 protein. This protein is part of the complement system, which helps your immune system destroy pathogens and clear immune complexes from the body. The condition is inherited in an autosomal recessive pattern, meaning you need to inherit defective genes from both parents to develop complete deficiency, though partial deficiency can occur with just one affected gene.

What is the best test for Complement Component 4 Deficiency?

The Complement Component C4c blood test is the most important test for Complement Component 4 Deficiency because it directly measures the levels of C4 protein circulating in your blood. People with this genetic disorder show characteristically low or absent C4c levels because their bodies cannot produce enough of this critical immune protein. This test provides definitive evidence of C4 deficiency and helps distinguish it from other complement disorders. Your healthcare provider may also order additional complement tests like CH50 (total complement activity) to assess overall complement system function.

When should I get tested for Complement Component 4 Deficiency?

You should get tested if you experience frequent bacterial infections, particularly respiratory or sinus infections that keep coming back. Testing is also important if you have been diagnosed with autoimmune conditions like lupus or experience unexplained inflammation, especially if you have a family history of immune disorders. Early diagnosis helps you and your doctor develop appropriate treatment strategies to prevent complications and manage infections effectively.

What are the symptoms of Complement Component 4 Deficiency?
People with Complement Component 4 Deficiency typically experience recurrent bacterial infections, especially of the respiratory tract, sinuses, and ears. Many individuals develop autoimmune complications, with symptoms similar to systemic lupus erythematosus including joint pain, skin rashes, and fatigue. Some people with partial deficiency may have mild symptoms or remain asymptomatic, while complete deficiency usually causes more significant immune problems and increased susceptibility to infections throughout life.
Who is at risk for Complement Component 4 Deficiency?
The highest risk group includes individuals with a family history of the condition, as it is inherited genetically from parents. People of all ethnic backgrounds can be affected, though the frequency varies among different populations. Children born to parents who both carry C4 gene mutations have a 25% chance of developing complete deficiency. Additionally, individuals with unexplained autoimmune conditions or recurrent infections without another clear cause should be evaluated for possible complement deficiencies.
What happens if Complement Component 4 Deficiency is left untreated?
Untreated Complement Component 4 Deficiency can lead to serious complications including severe and recurrent bacterial infections that may cause permanent organ damage. Many people develop autoimmune diseases, particularly lupus-like syndromes, which can affect the kidneys, heart, and other vital organs. Chronic inflammation from immune complex accumulation can cause progressive tissue damage over time. Early diagnosis and treatment with prophylactic antibiotics and immune support significantly reduces these risks and improves quality of life.
Can Complement Component 4 Deficiency be diagnosed with a blood test?
Yes, Complement Component 4 Deficiency is definitively diagnosed with the Complement Component C4c blood test, which measures the amount of C4 protein in your bloodstream. This simple blood test reveals whether your body is producing normal, reduced, or absent levels of C4 protein. Your doctor may order additional complement testing like C3 levels and CH50 to get a complete picture of your complement system function and rule out other immune deficiencies.
How is Complement Component 4 Deficiency treated?
Treatment focuses on preventing infections and managing autoimmune complications since there is no cure for this genetic condition. Many people take prophylactic antibiotics to reduce the frequency and severity of bacterial infections. If autoimmune symptoms develop, immunosuppressive medications or anti-inflammatory drugs may be prescribed to control inflammation and prevent organ damage. Prompt treatment of infections with appropriate antibiotics is crucial, and some individuals may benefit from vaccination against preventable bacterial infections.
How can I prevent complications from Complement Component 4 Deficiency?
While you cannot prevent the genetic condition itself, you can reduce complications by maintaining regular follow-up with your healthcare provider and taking prescribed prophylactic medications consistently. Stay up to date with vaccinations, particularly against bacteria like pneumococcus and meningococcus that commonly cause serious infections. Practice good hygiene, avoid exposure to sick people when possible, and seek medical attention promptly at the first sign of infection to prevent it from becoming severe.
What can I do at home to support my immune system with C4 Deficiency?
Focus on maintaining overall health through a balanced diet rich in vitamins and minerals that support immune function, including vitamins C, D, and zinc. Get adequate sleep, manage stress through relaxation techniques, and exercise regularly to keep your immune system as strong as possible. Avoid smoking and excessive alcohol consumption, which can further compromise immune function. Keep a symptom diary to track infections and identify patterns that you can discuss with your healthcare provider to optimize your treatment plan.
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Complement Component C4c
Google reviews 505 reviews
$177 $138
What's included
Fast & easy, results by email & SMS
No need to visit a doctor
Private & confidential
No insurance needed
Results explained
No extra fees paid at the lab

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