Granulomatous Disease Blood Test

What is Granulomatous Disease?

Granulomatous disease is a rare immune condition characterized by the formation of granulomas, which are clusters of immune cells that develop at sites of infection or chronic inflammation. It is caused by genetic mutations affecting the NADPH oxidase complex in white blood cells, leading to impaired ability to kill certain bacteria and fungi. The Saccharomyces cerevisiae Antibodies (ASCA) IgG test is the most important blood test for evaluating immune activity associated with granulomatous inflammation.

RECOMMENDED TEST Saccharomyces cerevisiae Antibodies (ASCA) (IgG)
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What causes granulomatous disease?

Granulomatous disease is caused by genetic mutations in the genes that produce the NADPH oxidase enzyme complex in white blood cells, particularly neutrophils and macrophages. These mutations impair the immune system's ability to produce reactive oxygen species needed to kill certain bacteria like Staphylococcus aureus, Serratia, Burkholderia, and fungi such as Aspergillus. The condition is typically inherited in an X-linked recessive pattern, though autosomal recessive forms also exist, leading to recurrent life-threatening infections and the formation of granulomas throughout the body.

What is the best test for granulomatous disease?

The Saccharomyces cerevisiae Antibodies (ASCA) IgG test is the most important blood test for evaluating immune activity associated with granulomatous disease because it detects elevated antibody levels against yeast that may indicate ongoing inflammatory processes. While tissue biopsy remains the gold standard for diagnosing granulomas, the ASCA IgG test provides valuable insights into immune system dysfunction and chronic inflammation patterns. Additional tests including complete blood count, immunoglobulin levels, and dihydrorhodamine (DHR) flow cytometry test can help assess the severity of immune impairment and guide treatment decisions.

When should I get tested for granulomatous disease?

You should get tested if you experience recurrent bacterial or fungal infections that are unusually severe or difficult to treat, such as pneumonia, skin abscesses, or lymph node infections. Testing is especially important if you have a family history of chronic granulomatous disease or if you develop persistent inflammation in the lungs, liver, or gastrointestinal tract. Children with frequent infections requiring hospitalization or adults with unexplained granulomas found on imaging should pursue testing promptly to enable early treatment and prevent serious complications.

What are the symptoms of granulomatous disease?
Symptoms of granulomatous disease include recurrent bacterial and fungal infections affecting the skin, lungs, lymph nodes, and liver, often presenting as abscesses, pneumonia, or persistent fever. You might notice frequent skin infections with pus-filled bumps, chronic diarrhea, difficulty gaining weight, and swollen lymph nodes that do not resolve. Many people also experience inflammation of the digestive tract causing abdominal pain and inflammation in bones, leading to pain and swelling in the joints.
Who is at risk for granulomatous disease?
Males are at higher risk for granulomatous disease because the most common form is X-linked, inherited through mutations on the X chromosome passed from carrier mothers to their sons. Individuals with a family history of chronic granulomatous disease or recurrent severe infections have increased risk, particularly those of certain ethnic backgrounds where carrier rates are higher. Children born to parents who are carriers or consanguineous couples also face elevated risk for developing this genetic immune disorder.
What happens if granulomatous disease is left untreated?
If granulomatous disease is left untreated, recurrent life-threatening infections can lead to permanent organ damage, particularly in the lungs, liver, and gastrointestinal tract. Chronic inflammation causes granulomas to form throughout the body, which can obstruct vital organs and lead to abscesses requiring surgical drainage. Without prophylactic antibiotics and antifungal medications, individuals face significantly reduced life expectancy due to overwhelming infections, sepsis, and progressive organ failure.
Can granulomatous disease be diagnosed with a blood test?
Granulomatous disease cannot be definitively diagnosed with a blood test alone, but blood tests play a crucial supporting role in evaluation. The dihydrorhodamine (DHR) flow cytometry test is the primary screening blood test that measures the ability of white blood cells to produce reactive oxygen species, revealing the functional defect characteristic of the disease. The ASCA IgG antibody test can identify inflammatory markers associated with granulomatous conditions, while genetic testing through blood samples can confirm specific mutations causing the disorder.
How is granulomatous disease treated?
Granulomatous disease is treated with lifelong prophylactic antibiotics such as trimethoprim-sulfamethoxazole to prevent bacterial infections and antifungal medications like itraconazole to prevent fungal infections. Interferon-gamma injections are given three times weekly to boost immune function and reduce the frequency and severity of infections. For severe cases, hematopoietic stem cell transplantation offers the potential for a cure by replacing the defective immune cells with healthy donor cells, though this carries significant risks and requires careful patient selection.
How can I prevent complications from granulomatous disease?
You can prevent complications from granulomatous disease by taking prescribed prophylactic antibiotics and antifungals daily without interruption, even when feeling well. Avoid exposure to environments with high concentrations of mold and fungi, such as compost piles, hay, and construction sites, and maintain good hygiene practices including regular handwashing. Seek immediate medical attention at the first sign of infection, stay current with all recommended vaccinations except live vaccines, and attend regular follow-up appointments to monitor organ function and adjust treatment as needed.
What can I do at home to support my immune system with granulomatous disease?
At home, you can support your immune system by maintaining excellent hygiene including thorough handwashing before meals and after touching potentially contaminated surfaces. Eat a nutrient-rich diet with plenty of fresh fruits and vegetables to support overall health, and ensure you get adequate sleep and manage stress levels effectively. Keep your living environment clean and free from mold by using dehumidifiers in damp areas, regularly cleaning bathrooms and kitchens, and promptly addressing any water leaks or moisture problems that could harbor fungal growth.
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Saccharomyces cerevisiae Antibodies (ASCA) (IgG)
Google reviews 505 reviews
$246 $192
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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