Living with chronic granulomatous disease awareness

Overview

Chronic granulomatous disease (CGD) is a rare inherited condition that affects the immune system. It makes it harder for the body to fight off certain types of bacterial and fungal infections. It also causes clusters of immune cells called granulomas to form, which can lead to inflammation in many parts of the body.

No. CGD is rare. It affects about 1 in 200,000 people worldwide.

CGD usually appears in childhood, but some people are not diagnosed until adulthood. It is more common in males than females because one of the main genes involved is on the X chromosome.

Symptoms

Common symptoms

• Frequent infections of the skin, lungs, lymph nodes, or liver
• Abscesses (painful collections of pus) in the skin or inside the body
• Granulomas that can cause stomach pain, diarrhea, or trouble swallowing
• Persistent fever or feeling unwell
• Slow healing of wounds

Symptoms in children

• Repeated or severe infections starting in early childhood
• Swollen lymph nodes
• Skin abscesses or boils
• Poor growth or weight gain
• Frequent pneumonia or lung infections

Symptoms in older adults

• Infections that may happen less often but are still possible
• Granulomas in the bladder, lungs, or liver
• Joint pain or mouth ulcers that look like autoimmune symptoms
• Chronic inflammation without an obvious infection

Causes

Main causes

• Genetic mutations in one of the genes that help certain white blood cells produce the chemicals required to kill germs.
• A faulty enzyme (phagocyte NADPH oxidase) that leaves immune cells unable to produce active oxygen compounds to destroy bacteria and fungi.
• CGD is inherited; it may be passed from parents to children or happen without a family history.

Risk factors

• Having a family member with CGD
• Being male, since the most common form is X-linked
• Being born to parents who are carriers of a CGD gene mutation

When to see a doctor

See a doctor urgently if:

• If you have a fever, feel generally unwell, or have any signs of infection, contact your care team or doctor the same day.
• If you have an abscess or skin sore that is getting worse.
• If you have new breathing problems or chest pain.

Book a routine appointment if:

• If you have CGD, keep regular check-ups with your immunologist (immune system specialist).
• If you have not been diagnosed but have repeated severe or unusual infections, talk to your doctor.
• Before getting any vaccine or traveling abroad, discuss it with your healthcare provider.

Diagnosis

Doctors diagnose CGD by reviewing your medical history, doing a physical exam, and ordering blood tests. The main blood test measures how well certain white blood cells can kill bacteria or fungi. A genetic test can confirm which gene is affected.

Tests that may be done

• DHR (dihydrorhodamine) flow cytometry test – a blood test that checks how well white blood cells produce active oxygen to kill germs.
• NBT (nitroblue tetrazolium) test – another blood test that looks at white blood cell function.
• Genetic testing – looks for mutations in the genes that cause CGD.
• Complete blood count and other blood tests to check for infection or inflammation.

What to expect at your appointment

Diagnosis usually starts with a blood sample, and results may take a few weeks. Your immunologist will explain what the results mean and help you build a care plan. If CGD is confirmed, your family may also be offered genetic counseling.

Treatment

Treatment focuses on preventing and managing infections, reducing inflammation, and helping the immune system work as well as possible. You will likely be cared for by a team of specialists, including immunologists, infectious disease doctors, and other experts.

Self-care at home

• Learn to spot early signs of infection such as fever, chills, coughing, or skin redness, and tell your doctor right away.
• Keep good oral hygiene and skin care to reduce the entry points for germs.
• Wash your hands often and avoid close contact with people who have contagious infections.
• Do not smoke, and try to avoid exposure to smoke, dust, or mold, which can irritate the lungs.
• Take any prescribed antibiotic or antifungal pills exactly as directed – do not skip doses.

Medical treatments

Medical care usually includes preventive (prophylactic) antibiotics and antifungals to reduce the risk of infection. Some people need immunoglobulin replacement therapy if their antibody levels are low. For severe or recurring disease, a stem cell (bone marrow) transplant may be considered. This is a complex treatment done in specialized centers, and your team will discuss if it is right for you. Never start or stop any medication without your doctor's guidance.

When is surgery considered?

Surgery is sometimes needed to drain large abscesses or to remove granulomas that block organs, such as the bowel or urinary tract. Your surgical team will explain why it is needed and what to expect.

Living with this condition

Living with CGD means having regular appointments, taking medications every day, and being alert to new symptoms. Many people work with their care team to create a 'flare plan' so they know what to do when symptoms start. It helps to build a strong relationship with your family doctor and your immunology center.

Lifestyle tips

• Keep up with your regular medications, even when you feel well.
• Stay active and maintain a healthy weight to support your immune system.
• Avoid crowded places during flu season and get the vaccines your doctor approves.
• Practice safe wound care – clean cuts and scrapes and keep them covered until healed.
• Join a support group to connect with others who understand what you are going through.

Diet and exercise

There is no special diet for CGD, but eating a balanced diet with plenty of fruits, vegetables, whole grains, and lean protein helps keep your body strong. Gentle regular exercise, like walking or light cycling, can improve fitness and well-being. If you have abdominal symptoms from granulomas, talk to your doctor or a dietitian about adjusting your diet.

Mental health and emotional wellbeing

Living with a chronic condition can feel stressful or isolating. It is normal to feel anxious, frustrated, or overwhelmed at times. Talking to a counselor or psychologist, or joining a support group, can really help. If you ever feel you need immediate mental health support, contact your local crisis team or call emergency services.

Prevention

CGD is genetic and cannot be prevented. However, the infections and complications that come with it can be reduced with early diagnosis, regular preventive care, and prompt treatment of infections. Genetic counseling can help families understand the risk for future children.

Vaccines

Vaccines are an important part of care, but they are not the same for everyone. Live vaccines (like measles, mumps, rubella, and some others) may be risky for people with CGD. Your immunologist will tell you which vaccines are safe for you or your child. Always ask before getting any vaccine.

Screening programmes

Newborn screening for CGD is not routine in most countries. If you have a family history of CGD, genetic testing and counseling can help you understand and plan. Early diagnosis leads to better outcomes.

Complications

If left untreated

• Recurrent pneumonia or lung abscesses that can scar the lungs
• Deep abscesses affecting the liver, spleen, brain, or bones
• Chronic inflammatory bowel problems that cause pain and poor nutrition
• Osteomyelitis (bone infection) that may damage the bone
• Sepsis – a life-threatening infection that spreads through the whole body

Long-term outlook

With proper medical care and an engaged health team, the outlook for people with CGD has improved greatly. Many people live into adulthood, work, study, and build families. Challenges remain, but new treatments and transplant options continue to improve. Staying on top of prevention and care gives the best chance for a full and active life.

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