Primary Ciliary Dyskinesia (PCD)

Last Updated 05/07/2020

Author:Peadar G. Noone, MD, FCCP

About Primary Ciliary Dyskinesia (PCD)

Key facts about Primary Ciliary Dyskinesia
  • Primary ciliary dyskinesia (PCD) is an inherited (called genetic) condition.
  • People with PCD have changes (called mutations) in genes that control the tiny, hair-like structures called cilia that protect the lungs and other tissues.
  • When cilia don’t work properly, the affected individual is prone to infections in the ears, sinuses, and lungs.
  • Eventually, bronchiectasis develops in the lungs.
  • About half of the people affected have mirror-image flipping of their organs—a condition called situs inversus.

Primary ciliary dyskinesia (PCD) is a rare genetic condition that can lead to chronic ear and sinus infections, pulmonary disease, situs inversus, and fertility issues.

How PCD affects your body

Cilia are tiny hair-like structures that “clean” the tissue lining the ears, nose, and airway and perform important functions in other parts of the body. People with PCD are missing a building block protein in cilia, which causes the cilia to beat improperly. These cilia cannot clear inhaled particles and bacteria from the lungs.

How serious is Primary Ciliary Dyskinesia?

PCD is estimated to occur in about 1 out of 15,000 to 20,000 people worldwide, although the disease is underrecognized. PCD has many symptoms, but the most serious is bronchiectasis, which may cause serious lung disease and even respiratory failure. These people may need oxygen therapy, breathing machines (called ventilators), or even a lung transplant.

In people with PCD, mucus builds up and makes them prone to airway infections (a chronic “wet” cough, bronchitis, or pneumonia). Lung disease may progress over time and is worsened by smoke and other environmental exposures. This leads to infection, swelling (called inflammation), and eventual lung damage known as bronchiectasis.

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.

When should you see your health care provider?

Talk to your provider if you have a family history of PCD, have been diagnosed with bronchiectasis or situs inversus, or have any of the symptoms mentioned above. You may also need to see a lung specialist, or pulmonologist.

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:

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?