How Primary Ciliary Dyskinesia (PCD) Affects Your Body

Primary ciliary dyskinesia (PCD) is a rare genetic disease that damages the cilia, the hairlike structures that protect your lungs and other tissues. When these tiny structures do not work, you become more prone to infections in your ears, lungs, and sinuses.

The lifelong problem is often diagnosed at birth when babies have breathing problems. Since it is often missed unless it is severe, PCD can also be diagnosed for the first time in adults.

Symptoms can be mild or severe and vary by person. Year-round nasal congestion and chronic cough are common. Treatment involves keeping airways clear and fighting illness.

This article describes PCD causes, symptoms, diagnosis, and treatment. It also details ways to help maintain your health if you have this problem.

Primary Ciliary Dyskinesia Symptoms

PCD is considered a rare disease. It occurs in about 1 in 16,000 to 20,000 births.

PCD affects your body by damaging the cilia. These microscopic projections are found in the linings of your airways, reproductive system, and other organs and tissue.

The cilia in the lungs move back and forth in a coordinated way to help mucus travel toward your throat. This helps to remove fluid, bacteria, and other particles from your lungs. However, people with PCD have genetic mutations that interfere with the normal beating of cilia, a process called dyskinesia.

How Can Nonfunctioning Cilia Make Me Sick?

Cilia affected by dyskinesia lose their ability to remove inhaled germs efficiently. Ciliary dysfunction allows mucus buildup and infection in your lungs and other mucus membranes.

The impact of nonfunctioning cilia varies by individual. The most common effects of abnormal cilia include the following:

• Kartagener syndrome: About 50% of people affected with PCD have a subtype called Kartagener syndrome. With this condition, your internal organs, including your heart, spleen, liver, and intestines, develop on the opposite side of the body (situs inversus) than normal. It may affect the positioning of all or some of these organs. Other symptoms of Kartagener syndrome are consistent with general PCD, including persistent ear infections and the inability to clear mucus from your lungs.
• Chronic, severe respiratory disease: Chronic, severe respiratory disease is common with PCD. The chronic aspect of the condition can lead to severe lung damage.
• Fertility issues: PCD also affects the cilia in your reproductive system. Males who have PCD typically have impaired sperm tail activity. This affects the sperm's mobility to move through the woman's reproductive tract and fertilize an egg, reducing the chances of conception. Females with PCD have defects in the cilia that line the fallopian tubes (the structures that carry the egg from the ovaries to the uterus). Impaired ciliary movement can interfere with this process. It also increases the risk for ectopic (tubal) pregnancy, in which the fertilized egg implants in the Fallopian tube instead of moving through to the uterus.
  

What Causes PCD?

PCD is a genetic disorder that follows an autosomal recessive genetic inheritance. A baby's chances of having this disorder depend on their parents.

A baby born with PCD has inherited the same abnormal gene for the PCD trait from each parent. When babies receive one normal PCD gene and one abnormal PCD gene, they will be carriers for the condition but usually will not have symptoms.

When both parents carry the gene for the PCD trait, they have the following risks of passing it on with each pregnancy:

• 50% chance that they will have a child who is a carrier
• 25% chance that they will have a PCD-affected child
  
• 25% chance that they will have a child who receives two normal genes with genetically normal cilia

How Do You Know You Have PCD?

It's not possible to know whether you have PCD by symptoms alone. If you have symptoms of PCD, you will likely need a specialized diagnosis and treatment care from an otolaryngologist, an ear, nose, and throat (ENT) specialist.

Since symptoms of PCD are very similar to several other conditions, misdiagnosis is common even when testing is done. The diagnosis of PCD is often delayed or missed because symptoms are often confused with other conditions, including the following:

• Cystic fibrosis
• Asthma
• Allergic rhinitis
• Gastroesophageal reflux disease (GERD)
• Immunodeficiency (failure or defects in your immune system)
• Interstitial lung disease

PCD is differentiated from other conditions by having the following symptoms:

• Situs inversus
• Chronic otitis media (ear infections)
• Chronic rhinosinusitis (inflammation of your nasal passages and sinus cavities)
• Chronic bronchitis with a wet cough

Prospective parents can learn whether they are carriers before conceiving by consulting with a genetic counselor. Knowing whether you are a carrier can alert your healthcare provider to your baby's risk of having this disorder. Symptoms typically occur shortly after birth or in early childhood and continue throughout your lifetime.

Other Symptoms of PCD

Symptoms of PCD usually start very early in life, often from birth. While treatments can help reduce infections, symptoms typically worsen and last a lifetime.

PCD Symptoms at Birth

The following PCD symptoms can be present at birth:

• Neonatal respiratory distress (trouble breathing at birth) in full-term babies, usually needing supplemental oxygen for days to weeks
• Situs inversus (mirror image orientation of the heart and other internal organs)
• Congenital heart disease because of abnormal heart valves or blood vessels
• Recurrent otitis media with effusion (liquid discharge)
• Heterotaxy (abnormal positioning or structure of internal organs)
• Year-round, daily wet cough with or without mucus
• Year-round, daily nasal congestion
• Recurrent lower respiratory tract infections
• Digital clubbing (enlargement of fingers and/or toes due to excess connective tissue around the nails)
• Abnormality of the genitourinary system

Ongoing PCD Symptoms

PCD symptoms can vary by person and worsen with age. In addition, new health issues can occur as a result of recurring infections. The most common ongoing PCD symptoms include:

• Chronic sinusitis (sinus infections)
• Recurrent otitis media with effusion
• Recurrent sinopulmonary infections (involving both the paranasal sinuses and the lungs)
• Recurrent upper respiratory tract infections
• Recurrent lower respiratory tract infections
  
• Bronchiectasis (an obstructive lung disease that involves a permanent widening of your airways as a result of repeated respiratory infections and pneumonia)
• Delayed speech and language development
• Nasal polyps
• Hearing loss in adulthood
• Fertility issues in men and women
• Abnormal sputum or phlegm
• Atelectasis (a condition in which the airways and air sacs in your lung collapse or do not expand properly)

How Is PCD Diagnosed?

No specific test can confirm 100% of all cases of PCD, so getting an accurate diagnosis can be challenging. Since symptoms vary and are not specific to this disease, getting a diagnosis may require more than one test.

The diagnosis of PCD usually includes one or more of the following evaluations:

• Clinical history: This includes a physical examination, medical history, family history, and severity of symptoms.
• Ciliary biopsy: This type of biopsy is performed by scraping ciliated cells from surfaces inside your nose or lower airways. The samples are examined with transmission electron microscopy (TEM) to show where there are any problems with the structure or function of your cilia.
• Nasal nitric oxide testing: This testing uses a special device to measure nitric oxide levels, a gas present when you exhale. People with PCD have extremely low levels of this gas in their sinus cavities.
• High-speed video microscopy (HSVM): HSVM evaluates the ciliary beat pattern, which increases in a time-dependent manner when PCD is present. This test has limited availability due to the high degree of specialized skill and training needed.
• Genetic testing: About 70% to 80% of cases of PCD can be positively identified via genetic testing, also known as DNA testing. Most of the 44 genes known to carry PCD-causing defects are included in most genetic testing.

Other tests can also be used to establish a PCD diagnosis:

• Lung function tests: Since lung function may be lower in people with PCD, these tests evaluate how well your lungs work by measuring lung volume, rates of flow, and gas exchange.
• Semen analysis: This test is used for adult men because PCD can affect sperm cells.
• Chest computed tomography (CT) scan: A CT scan checks for structural changes in your lungs due to chronic infections.

Tests to rule out diseases with similar symptoms like cystic fibrosis, asthma, or immune disorders.

What Is PCD Treatment Like?

There is no cure for PCD. Treatment focuses on slowing disease progression by supporting the following goals:

• Controlling and treating lung, sinus, and ear infections
• Removing trapped mucus from your lungs and airways

Treatment is individualized and typically involves one or more of the following techniques:

• Chest physical therapy: Chest physical therapy, also called chest clapping or percussion, involves pounding your chest and back repeatedly with your hands, a special device, or with the help of a specialist. This helps to loosen mucus in your lungs so you can cough it up. Coughing helps keep your airways clear.
• Antibiotics: Antibiotics are used to prevent or treat lung infections. Mild infections are treated with oral antibiotics. If your infection is serious or hard to treat, intravenous (IV) antibiotics may be necessary for a few weeks.
• Bronchodilators: Bronchodilators are drugs that are typically inhaled. These medications open your airways by relaxing the surrounding muscles. They are sometimes used before chest physical therapy to help clear mucus or before inhaling other treatments. These drugs are often reserved for people with PCD who also have asthma.
• Anti-inflammatory medications: Anti-inflammatory medications are inhaled or taken orally. They help reduce airway swelling caused by chronic infections.
• Mucolytics: Mucolytics (mucus thinners) are medicines given to thin the viscosity of mucus, which makes it easier to clear. These medications are most commonly inhaled but also be taken orally or by IV. N-acetylcystein (NAC) is commonly used.
• Azithromycin maintenance therapy: Azithromycin maintenance therapy can help control bacteria and reduce inflammation in people with PCD.
• Hypertonic saline: Hypertonic saline is a special type of salt water that has a high concentration of salt. It is used to flush the nose and sinuses by thinning mucus and making it easier to cough out.
• Oxygen therapy: When PCD leads to severe lung disease, you may need oxygen therapy at night or during exercise. This treatment helps to increase the amount of oxygen in your body to healthy, normal levels.
• Surgery: While not a first-level treatment, surgery may relieve symptoms when PCD can not be managed with other therapies. For example, surgery may be used to remove nasal polyps.

Potential PCD Complications

While many people with PCD have only mild symptoms, the condition can potentially lead to serious problems. Having PCD increases your risk of the following complications:

• Bronchiectasis
• Infertility in men
• Problems with conception and infertility for women
• Respiratory failure (failure of your lungs to pass oxygen into your bloodstream and remove carbon dioxide)
• Permanent hearing loss due to untreated ear infections
• Hydrocephalus (accumulation of fluid in the brain), rarely
  

What's the Life Expectancy for People With PCD?

There is no formal evidence about the life expectancy of people with PCD. Anecdotal evidence indicates that having the condition may result in a reduced life span due to the effects of chronic respiratory disease and lung damage common with PCD. Overall, people with PCD experience a lifetime of significant illness and a decreased quality of life.

However, the reduction in lifespan and symptom intensity are not consistent across individuals. There is a wide range of disease progression and life expectancies with PCD. While there is no average life expectancy for PCD, some people with PCD live into their 70s or 80s.

Tips for Living With PCD

Living with PCD includes regular visits to your healthcare provider to monitor your disease and its progression. Between visits, you can help achieve the best outcomes by living a healthy lifestyle and following these tips for living with PCD:

• Participate in regular physical exercise to improve respiratory muscle strength and mobilize secretions in your airway.
• Quit smoking or using tobacco products.
• Avoid exposure to passive or secondhand smoke.
• Follow a heart-healthy diet.
• Wash your hands often to reduce your risk of infection.
• Avoid medicines that suppress coughing since coughing clears mucus from your airways.
• Follow your healthcare provider's recommendations for chest physical therapy and/or airway clearance.
• Get regular vaccines to reduce the risk of infections, as your healthcare provider advises.
• Address feelings of fear, anxiety, and depression that are common with PCD by discussing your feelings with your healthcare provider. Follow their advice for professional counseling and/or medication that can help improve your quality of life.

PCD can affect many aspects of your life. The physical and emotional impact of this condition can also affect your employment.

Depending on your symptoms, you may qualify for Social Security Insurance (SSI) and/or Social Security Disability (SSD) payments from the U.S. Social Security Administration.

To receive SSI and/or SSD benefits, you must apply for aid and meet the basic requirements for a qualifying disability with limited income and resources.

Summary

Primary ciliary dyskinesia (PCD) occurs when you have mutations in the genes that control the structure and function of cilia. This prevents these tiny structures from doing their job of protecting your airways from disease.

This chronic disease is often present at birth when it causes problems in normal breathing. Symptoms can worsen with time, ranging from mild to severe. For many people, PCD causes a decline in quality of life and chronic illness.

There is no cure for PCD. Treatment involves keeping your airways clear and working to fight the risk of infection.

The outlook varies for people with PCD. While it can be severe, many people live active and normal lives with it.