Primary Ciliary Dyskinesia

What Is Primary Ciliary Dyskinesia (PCD)?

Primary ciliary dyskinesia (PCD) is an inherited disease that affects tiny hair-like structures in the body called cilia. These cilia normally help move mucus, dust and bacteria out of the lungs and other parts of the body. In people with PCD, the cilia don’t work properly. They may not move at all, move in the wrong way or be missing entirely. This can lead to breathing problems, frequent lung infections and other health issues. PCD is a rare disease, affecting 1 in 7,600 people, according to the PCD Foundation.

Causes

Genetic and Inheritance Factors

PCD is a genetic condition, meaning it is caused by changes in specific genes that affect how cilia — the tiny, hair-like structures that line the airways — are built and function.

In order to develop PCD, a person must receive two copies of a non-working gene, one from each parent. Parents who each carry one copy of the affected gene typically do not have symptoms themselves, but they can pass the gene to their children.

More than 40 genes have been linked to PCD so far. These genes provide instructions for making the proteins that form and drive the cilia. Because many different genes can be involved, the symptoms and severity of PCD may vary from person to person.

Signs & Symptoms

Primary ciliary dyskinesia can affect several systems within the body. Because the cilia during embryonic development are also dysfunctional, symptoms typically occur very early in life. Infants with PCD may develop respiratory problems and require oxygen. Primary ciliary dyskinesia often results in:

• Bronchiectasis
• Congestion
• Chronic cough
• Ear infections
• Recurring pneumonia
• Sinusitis

Primary ciliary dyskinesia also may cause certain organs to form on the opposite side of the body, such as the heart being on the right instead of the left side of the thoracic cavity and the organs of the abdominal cavity being reversed in position (called situs inversus). This occurrence, in combination with bronchiectasis and chronic sinusitis, is referred to as Kartagener’s syndrome.

The cilia structures affected by primary ciliary dyskinesia are also crucial in other parts of the body, including nasal/sinus passageways, ear canals, fallopian tubes, and sperm. Patients with primary ciliary dyskinesia tend to also experience recurrent sinus and ear infections, and fertility can be affected.

Bronchiectasis is often the most prevalent consequence of primary ciliary dyskinesia. This bronchial airway problem can worsen over time, leading to increased cough and mucus from the lungs. Other conditions associated with PCD include:

• Cardiac abnormalities
• Epispadia
• Humoral immunodeficiency
• Infertility or decreased fertility
• Pectus excavatum
• Pyloric stenosis
• Rhinosinusitis and otitis
• Scoliosis

Diagnosis

A complete medical and exposure history is essential for diagnosis. In many cases, primary ciliary dyskinesia symptoms will be present at an early age. However, it’s possible for it to be diagnosed later in life. Your doctor will conduct a complete physical exam and ask you questions about your family history, lifestyle, job, habits, medications, and symptoms. When primary ciliary dyskinesia is suspected, your doctor may order a combination of specialized tests.

Breathing and Exercise Tests

Lung function tests: These tests evaluate how the lungs are working by examining gas exchange, lung volume, and rates of flow. In people with PCD, lung function may be reduced.

Nasal nitric oxide (nNO) measurement: This noninvasive test measures nitric oxide (a gas) levels when you exhale. In people with PCD, nasal nitric oxide levels are much lower than normal and are often used as a first-line screening tool for diagnosis.

Imaging Tests

CT scan of the chest: A CT or CAT scan is a shortened name for computerized tomography. During a CT scan of the chest, detailed pictures are taken of cross sections or slices of the thoracic structures in your body. Thoracic structures include your lungs, heart and the bones around these areas. Sometimes intravenous contrast is administered to better see the blood vessels in the lung.

Electron microscopy: Using an electron microscope, your provider can look at samples of your airway cilia. This test can show the structure of your cilia to see if they appear normal or whether there are any problems.

Radiolabeled particles: Providers are able to test how well your cilia can move lightly radiated particles. If your lungs expel the particles more slowly than normal, your cilia may not be working well. This could be a sign of primary ciliary dyskinesia.

Lab Tests

Genetic testing: Researchers have found many genes associated with primary ciliary dyskinesia. Genetic testing can show whether you have faulty genes linked to the disease. Genetic testing is done using a blood sample. The sample is taken from a vein in your body using a needle. The blood sample is checked at a special genetic testing laboratory.

Semen analysis: This test is used for adult men. In men, primary ciliary dyskinesia can affect cilia-like structures that help sperm cells move. As a result, men who have PCD may have fertility problems. For this test, a sample of semen is checked under a microscope. Sperm that don’t move normally or a low sperm count may be signs of primary ciliary dyskinesia.

Treatment

Although there is no cure for primary ciliary dyskinesia, certain treatments can help to address lung health and manage long-term complications. Patients should be monitored closely for infections and start airway clearance measures early to decrease infection risk. Airway clearance is a cornerstone of bronchiectasis management and may include chest percussion, postural drainage, oscillating positive expiratory pressure devices, “flutter” valves, and high-frequency chest wall oscillation vests.

ENT care and sinus management: Regular visits with an ENT specialist may help manage chronic ear and sinus infections. Sinus rinses, nasal steroids or minor surgical procedures may be recommended.

Fertility and genetic counseling: Because PCD is inherited, patients and families may benefit from genetic counseling to understand inheritance patterns and reproductive options.

Infection prevention: Annual flu and pneumococcal vaccinations are recommended to lower the risk of respiratory infections. Avoiding exposure to smoke and air pollutants can also help maintain lung health.

Medications

Inhaled medications: Inhaled long-acting bronchodilators may also be used to treat bronchiectasis as a result of PCD. Long-acting bronchodilators can be either LABAs (long-acting beta2 agonists) or LAMAs (long-acting muscarinic antagonists).  LABA and LAMA are types of bronchodilators.

LABAs include:

• Arcapta® (indacaterol)
• Brovana® (arformoterol)
• Perforomist® (formoterol)
• Serevent® (salmeterol)
• Stiverdi® (olodaterol)

LAMAs include:

• Incruse® (umeclidinium)
• Seebri® (glycopyrronium)
• Spiriva® (tiotropium)
• Tudorza® (aclidinium)

LAMA & LABA combinations include:

• Anoro® (umedcldinium and vilanterol)
• Stiolto® (olodaterol and tiotropium)
• Utibron® (indacaterol and glycopyrolate)

Inhaled steroids: Inhaled steroids reduce and prevent swelling inside the airways. They are not a standard in PCD management, but are sometime used in certain patients depending on other conditions they may have, such as asthma. Common inhaled steroids include:

• Alvesco® (ciclesonide)
• ARNUITY (fluticasone)
• Asmanex® (mometasone)
• Flovent® (fluticasone)
• Pulmicort® (budesonide)
• QVAR® (becolmethasone)

Inhaled steroid and long-acting bronchodilator combinations: The use of inhaled steroids alone or in combination with other medications are not a standard in bronchiectasis management, but are sometime used in certain patients depending on their other conditions, such as PCD. Common combinations of inhaled steroid and long-acting bronchodilator include:

• Advair® (fluticasone and salmeterol)
• Breo® (fluticasone and vilanterol)
• Dulera® (mometasone and formoterol)
• Symbicort® (budesonide and formorterol)

Inhaled hypertonic saline may be used to loosen airway mucus for easier clearance.  Common strengths of hypertonic saline are 3% and 7% and are generally used once or twice daily and are administered with a nebulizer.

Therapies

Bronchopulmonary Hygiene Therapy: Improved clearance of mucus is the cornerstone of the management of PCD and includes several components. They include:

• Inhaled medication (bronchodilator with sodium chloride saline) 
• Airway clearance measures (oscillating positive expiratory pressure device, high-frequency chest wall oscillation vest)
• Breathing techniques such as active cycled breathing or autogenic drainage

Your doctor may recommend one or more of them depending on your individual needs.

An inhaled bronchodilator medication opens the airways by relaxing the smooth muscles around the airways. This type of medication is available in a number of inhaled forms. 

Commonly used inhaled short-acting bronchodilators include:

• ProAir RespiClick or HFA®, Proventil® HFA, Ventolin® HFA (albuterol)
• Xopenex® (levalbuterol) 

Lifestyle Management

Making adjustments to your lifestyle can improve your symptoms.

• Exercise regularly as directed by your health care provider. This helps you breathe easier by improving your muscle strength and tone and helps improve clearing the mucus from the airways.
• Eat a well-balanced healthy diet and drink plenty of fluids. If you have GERD you may need to limit fluids, especially 2-3 hours before bed.
• Give up smoking and avoid exposure to passive smoke. Ask your health care provider for techniques to help you give up smoking.
• Get a flu shot every year in the fall. Get the pneumococcal vaccines as recommended by your health care provider.

Living with primary ciliary dyskinesia is a unique and special challenge that you and your family must deal with on a daily basis. Management is a long-term commitment. But the more you know about PCD, the better suited you are in managing the various aspects of your disease. As you take control, your quality of life will improve.

Be sure to talk with your doctor if you have questions or concerns about your plan. Write down any questions you have and ask your doctor at your next appointment.

You can also learn more from national patient organizations such as the PCD Foundation, which provides education, community support and clinical research updates.

Clinical Trials

Clinical trials help determine new treatment options for diseases and conditions. Patients with primary ciliary dyskinesia have access to clinical trials and should speak with their physician to determine what trials might work best for them.

When to See a Specialist

It’s important to be evaluated by a pulmonologist if you or a loved one: 

• Has a family member with primary ciliary dyskinesia 
• Has symptoms of primary ciliary dyskinesia
• Has bronchiectasis 
• Would like to improve your current treatment of primary ciliary dyskinesia 

At National Jewish Health in Denver, Colorado, we have expertise in treating patients with primary ciliary dyskinesia, with our hospital receiving recognition as a Center of Excellence for PCD. Our pulmonologists are up to date with current treatment strategies and potential treatment options that are being researched. We also have extensive expertise in treating bronchiectasis, which commonly occurs when patients have primary ciliary dyskinesia. Learn more about our primary ciliary dyskinesia program or use the button below to make an appointment.

FAQs

What is primary ciliary dyskinesia? 

Primary ciliary dyskinesia is a rare, inherited condition that affects tiny hair-like structures called cilia, which help move mucus out of the airways. When cilia do not work properly, mucus builds up, leading to frequent respiratory infections.

What are common signs and symptoms of PCD? 

Symptoms often begin early in life and may include chronic cough, persistent nasal congestion, recurrent ear or sinus infections, and frequent lung infections. Some people also have difficulty clearing mucus from their lungs.

How is primary ciliary dyskinesia diagnosed? 

Diagnosis typically involves a combination of specialized tests, including nasal nitric oxide measurement, high-speed video microscopy, genetic testing, and sometimes electron microscopy. Because symptoms overlap with other conditions, diagnosis is best done at a center experienced with PCD.

Is primary ciliary dyskinesia genetic? 

Yes. PCD is inherited, usually in an autosomal recessive pattern, meaning a person must receive a gene mutation from both parents. Family members may be carriers without having symptoms.

How does PCD affect the lungs and sinuses? 

Poor mucus clearance allows bacteria to grow, increasing the risk of chronic infections, bronchiectasis, and ongoing sinus disease. Early diagnosis and regular care help reduce long-term lung damage.

Can PCD affect other parts of the body? 

Yes. Some people with PCD have situs inversus, where internal organs are reversed. Fertility issues may also occur because cilia play a role in reproductive function.

How is primary ciliary dyskinesia managed? 

Management focuses on keeping the airways clear and preventing infections. This often includes airway clearance therapy, inhaled medications, antibiotics when needed, and regular monitoring by a specialized care team.

When should I see a specialist for PCD? 

You should see a specialist if you or your child has chronic respiratory symptoms that do not improve with standard treatment. Early evaluation by a PCD center can lead to better symptom control and long-term outcomes.