C3 Deficiency Blood Test

What is C3 Deficiency?

C3 deficiency is a rare inherited immune disorder characterized by extremely low levels of complement component C3, a critical protein in the immune system. It is caused by genetic mutations that prevent normal production or function of the C3 protein, leaving the body unable to effectively fight bacterial infections. The Complement Component C3c and C4c blood test is the most important test for diagnosis because it directly measures C3 levels in the blood.

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What causes C3 deficiency?

C3 deficiency is caused by inherited genetic mutations that affect the production or function of complement component C3, a crucial protein in the immune system. These mutations are typically autosomal recessive, meaning a person must inherit a defective gene from both parents to develop the condition. When C3 protein is absent or significantly reduced, the complement system cannot properly identify and eliminate harmful bacteria, making the body highly vulnerable to severe and recurrent bacterial infections, particularly from encapsulated bacteria like Streptococcus pneumoniae and Haemophilus influenzae.

What is the best test for C3 deficiency?

The Complement Component C3c and C4c test is the most important test for C3 deficiency because it directly measures the levels of these critical complement proteins in your blood. In people with C3 deficiency, C3c levels will be significantly reduced or completely absent, providing clear diagnostic confirmation of this rare immune disorder. This blood test is essential because it distinguishes C3 deficiency from other complement deficiencies and immune disorders that may present with similar symptoms of recurrent infections. The test also measures C4c levels, which helps doctors understand whether other parts of the complement system are affected and guides appropriate treatment strategies.

When should I get tested for C3 deficiency?

You should get tested if you experience recurrent bacterial infections, especially pneumonia, meningitis, or severe sinus infections that keep coming back despite antibiotic treatment. Testing is particularly important if you have a family history of immune disorders or unexplained infections, if you were diagnosed with frequent infections as a child, or if your doctor suspects a complement system problem. Early diagnosis through blood testing is critical because it allows for prompt treatment with antibiotics and immunizations to prevent life-threatening infections and enables genetic counseling for family members who may be carriers of the mutation.

What are the symptoms of C3 deficiency?
The primary symptoms of C3 deficiency include recurrent bacterial infections, particularly pneumonia, meningitis, sinusitis, and ear infections that occur frequently throughout childhood and adulthood. You might notice that infections are more severe than normal, take longer to heal, or keep returning even after antibiotic treatment. Some people with C3 deficiency also develop kidney problems, including glomerulonephritis, which can cause blood in the urine, swelling in the legs and ankles, and high blood pressure. Because the immune system cannot fight bacteria effectively, even minor infections can become serious quickly.
Who is at risk for C3 deficiency?
People with a family history of C3 deficiency or unexplained immune disorders are at highest risk because this condition is inherited in an autosomal recessive pattern. If both parents carry one copy of the defective gene, their children have a 25% chance of developing C3 deficiency. The condition is extremely rare, affecting approximately 1 in 1 million people worldwide, and can affect anyone regardless of ethnicity or gender. Children born to parents who are carriers or who have consanguineous relationships face increased risk and should be screened early if recurrent infections develop.
What happens if C3 deficiency is left untreated?
Untreated C3 deficiency can lead to life-threatening complications including severe bacterial meningitis, sepsis, and overwhelming infections that can be fatal. Recurrent infections can cause permanent organ damage, particularly to the kidneys, lungs, and ears, leading to chronic kidney disease, respiratory problems, and hearing loss. Without proper treatment and preventive measures, people with C3 deficiency face significantly reduced life expectancy due to repeated severe infections. Early diagnosis and aggressive treatment with prophylactic antibiotics, vaccinations, and prompt infection management are essential to prevent these serious complications and improve long-term outcomes.
Can C3 deficiency be diagnosed with a blood test?
Yes, C3 deficiency can be definitively diagnosed with a blood test that measures complement component levels. The Complement Component C3c and C4c test is a simple blood draw that directly measures the concentration of these proteins in your serum, with C3c levels being significantly reduced or absent in people with this condition. Additional blood tests may include total hemolytic complement activity and genetic testing to identify the specific mutation causing the deficiency. Blood testing is the gold standard for diagnosis and is far more accurate than relying on clinical symptoms alone, which can overlap with many other immune disorders.
How is C3 deficiency treated?
C3 deficiency is treated primarily through aggressive infection prevention and management strategies. Treatment includes prophylactic antibiotics taken daily to prevent bacterial infections, along with comprehensive vaccination against encapsulated bacteria like pneumococcus, meningococcus, and Haemophilus influenzae. When infections do occur, they require immediate treatment with intravenous antibiotics to prevent serious complications. Some patients may benefit from plasma infusions that temporarily provide complement proteins, though this is not a cure. Regular monitoring with blood tests helps track complement levels and kidney function, while genetic counseling is important for family planning.
How can I prevent complications from C3 deficiency?
Preventing complications requires strict adherence to daily prophylactic antibiotics and staying current with all recommended vaccinations, particularly those protecting against encapsulated bacteria. You should seek immediate medical attention at the first sign of infection, avoid people who are sick, practice excellent hand hygiene, and inform all healthcare providers about your C3 deficiency before any surgical procedures. Regular follow-up appointments with an immunologist and periodic blood testing to monitor complement levels and kidney function are essential. Wearing a medical alert bracelet can ensure proper treatment in emergencies, and maintaining open communication with your healthcare team helps catch problems early before they become serious.
What can I do at home to manage C3 deficiency?
At home, focus on maintaining a strong overall health foundation by eating a nutrient-rich diet, getting adequate sleep, managing stress, and avoiding smoking and excessive alcohol, which can further weaken immune function. Keep a health journal tracking any infections, symptoms, and medications to share with your doctor at regular visits. Create a clean home environment by regularly disinfecting high-touch surfaces, using air purifiers, and avoiding mold and dampness that can harbor bacteria. While these measures cannot cure C3 deficiency, they support your overall health and may reduce infection frequency when combined with prescribed medical treatments. Always take your prophylactic antibiotics exactly as prescribed and never skip doses, even when feeling well.
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Complement Component C3c and C4c
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What's included
Fast & easy, results by email & SMS
No need to visit a doctor
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Results explained
No extra fees paid at the lab

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