Primary Ciliary Dyskinesia (PCD)

Symptoms of PCD

Symptoms typically occur either shortly after birth (“neonatal” pneumonia, for example) or in early childhood and persist throughout life.

The most common symptoms of PCD lung disease are:

• A wet cough from birth or infancy, with or without mucus, that lasts for a long time;
• Shortness of breath;
• Wheezing or a whistling sound when you breathe;
• Recurring chest colds;
• Asthma that doesn’t respond to usual treatment;
• Middle ear infections; and
• Chronic nose infections, thick nasal drainage, or sinusitis.

Another symptom of PCD is hearing problems caused by chronic damage to the middle ear. Situs inversus, where organs are reversed in their positions in the body (for example, heart on the right, liver on the left), is another symptom. Babies with PCD may be born with heart disease because of abnormal heart valves or blood vessels. Women may have difficulty getting pregnant or have tubal pregnancies. Most men are infertile because their sperm don’t swim properly.

What causes PCD?

PCD is caused by inheriting an abnormal copy of the PCD gene from both parents. You cannot “catch” PCD from someone else. PCD can occur in people who have no known family history of the disease because people with only 1 abnormal PCD gene (called carriers) are typically healthy.

Not everyone who inherits PCD will have the same symptoms or severity of disease. Some gene mutations are more common than others and may be related to your ethnic background. Researchers are working to learn more about what causes PCD.

What are risk factors for PCD?

Your parents’ genes determine whether you’re at risk for PCD. You are at risk only if both parents have 1 or more PCD gene mutations. However, because this is often not known, anyone with the symptoms mentioned above should consider PCD testing.

You may have a higher risk of having PCD if you:

• Smoke;
• Have direct contact with people who have a cold or chest infection;
• Don’t get appropriate vaccines, like the flu shot;
• Have a poor diet and are not active; or
• Don’t practice good airway clearance.

Diagnosing PCD

PCD may first be diagnosed as asthma, chronic bronchitis, smoking-related chronic obstructive pulmonary disease (COPD), or bronchiectasis of unknown cause. Because PCD is inherited, it’s also important to consider your family history of lung, sinus, or ear disease or of situs inversus.

The first step in diagnosing PCD is for your health care provider to take a detailed health history, followed by a careful physical exam and specific tests. These tests include:

• Blood work;
• Sputum (saliva and mucus) tests to check for bacteria seen with PCD;
• Chest X-ray
• Chest computed tomography (CT) scan; and
• Lung function tests.

At that point, your provider may be able to make a diagnosis. If not, more specific tests may be needed.

Although there’s no proof that early diagnosis is important, it’s likely to be helpful, as with other chronic diseases. Early diagnosis of PCD is important because early treatment is needed to help slow the course of PCD-related lung disease.

Treating PCD

Although no specific treatment helps the cilia work properly, there are treatments for the effects that PCD has on patients. These treatments include:

• Antibiotics to address lung or sinus infections;
• Airway clearance techniques, including breathing and coughing techniques, usually with the help of physical therapy or airway clearance devices. These techniques need to be done frequently to help the lungs stay clear; and
• New medicines that are being used in research studies.

Managing PCD

The most important steps for managing PCD are to:

• See your health care provider regularly;
• Have lung function and sputum tests for infections;
• Practice regular effective airway clearance; and
• Keep good health practices and follow your health care provider’s advice.

Infections may occur once every few years to a few times a year. These infections typically need to be treated with antibiotics. You may be able to stay at home, or you may need to go to the hospital if the infection is more severe. When in the hospital, you will likely receive airway clearance with physical therapy.

You may need to see an ear, nose, and throat (ENT) doctor if your sinus and ear problems are hard to manage. The ENT may recommend methods to clean your nose and sinuses or even surgery. Sometimes, even with the best care, PCD can lead to severe lung disease that needs more intense treatment. You may need oxygen therapy at night or during exercise. With severe disease, you may need a device to help with your breathing. In a few patients whose lungs are failing badly, their health care provider may suggest a lung transplant.

Resources

The American Lung Association recommends that patients and caregivers join its Living with Lung Disease support community to connect with others facing this disease.

Ask your health care provider about lung disease support groups in your area, or look online for a Better Breathers Club near you.

Questions to ask your health care provider

Making notes before your visit and taking along a trusted family member or friend can help you through the first appointment with your provider.

The following are some questions to help you discuss PCD with you provider:

• Could I have PCD?
• What do I need to do to keep myself as healthy as possible for as long as possible, especially my lungs?
• Can you explain more about “airway clearance”?
• Do I have any infections that may require treatment?
• Am I able to have children? If I am, will they have PCD?