PCD: Constant problems with your nose, throat or ears

Do you always have a runny nose, do you cough a lot and do you often suffer from an ear or throat infection? You may then be suffering from PCD or Primary Ciliary Dyskinesia. PCD is a congenital condition that regularly causes infections in the throat, nose, ears and lungs. Poorly functioning cilia are the cause. PCD is a relatively unknown condition. The disease is therefore often only diagnosed in adulthood – after a long period of doctoring. The nose, paranasal sinuses, pharynx and middle ear are part of the upper respiratory tract. Together they ensure that the air we breathe is heated and humidified before it goes to the lungs. In addition, the mucus and microscopic cilia in our nose, mouth and throat block many harmful substances and pathogens, such as viruses, bacteria and fungi. The unwanted intruders are captured in the mucus and moved towards the pharynx by the cilia, with waving movements. Here we can swallow them. Instead of going to the lungs, the pathogens and harmful substances then go to the stomach, where they are eliminated by the aggressive stomach acid.

Poorly functioning cilia

An error in one or more genes ensures that the cilia in people with PCD are unable or insufficiently able to make the waving movements that are necessary to remove harmful substances in our nose and mouth. Ciliary (the C in PCD) means cilia and Dyskinesia (the D in PCD) means poor mobility. The movements of the cilia are too slow, too fast or not coordinated. Bacteria, viruses or fungi therefore remain in the mucus longer and are more likely to cause an infection of the upper respiratory tract.

Because the pathogenic substances are not removed quickly enough to the pharynx, many of them also manage to go to the lungs via the trachea. Due to the poor functioning of the cilia, a lot of mucus accumulates in the smaller airway branches to the lungs. This is a good breeding ground for bacteria, which repeatedly cause infections. The frequent infections affect the walls of the airway branches, causing them to sag and, as it were, increasingly larger sacs to form that fill with mucus. The environment is becoming more and more favorable for bacteria and infections are becoming increasingly difficult to combat.

Repeated respiratory infections

Three out of four people with PCD have a chronic ‘cold’. Constant coughing, a stuffy nose, sinus infections, ear infections, chronic bronchitis and pneumonia are common. Repeated infections cause some people to lose their sense of smell over time, hearing loss, speech disorders, dizziness (due to damage to the vestibular organ) and breathing problems (due to permanent damage to the lungs). The many infections also exhaust the body, resulting in severe fatigue, eating problems and being underweight. The complaints can differ from person to person and often seem to be worse in winter than in other seasons.

Many men who suffer from PCD are infertile or have reduced fertility. This is because the lashes of the sperm cells do not function sufficiently. This makes it more difficult for the sperm cells to reach an egg. The exact relationship with PCD is not yet completely clear, but it is striking that the flagella of sperm cells are very similar in structure to the cilia. It is still unknown whether there is a link between reduced fertility and PCD in women.

Organs lying mirrored

In approximately half of people with PCD, one or more organs in the chest or abdomen are mirrored compared to normal (situs inversus). For example, the heart is not on the left, as in most people, but on the right. During the embryonic phase something went wrong with the placement of the organs. Here too, the connection with PCD is not yet completely clear, but it is assumed that the cilia play an important role in positioning the organs in the chest and abdominal cavities. If the cilia do not function or do not function sufficiently, it is probably a matter of chance whether an organ ends up on the left or right in the chest or abdominal cavity. In most cases, mirrored organs function no less well than organs that are in the right place. Not everyone with PCD has mirrored organs and not everyone with mirrored organs has PCD. When both conditions occur at the same time, it is also called Kartagener syndrome.

Examination in the hospital

People with PCD generally visit their GP often because of their frequent infections. Because the condition is so unknown, a GP’s diagnosis of PCD (or suspicion thereof) is not always easy. However, to prevent permanent damage to hearing and the respiratory tract, it is important to receive confirmation that PCD is present as early as possible. Repeated respiratory infections will be sufficient reason for most general practitioners to refer the person in question to the hospital for further examination. In view of the complaints, the doctor will usually perform one or more of the following examinations: measuring mucus transport, an examination of the cilia function and an examination of the structure of the cilia (electron microscopy).

When measuring mucus transport, a certain substance (saccharin or radioactively labeled protein particles) is applied to the mucus in the nose. The doctor then monitors whether and how quickly the substance is transported through the moving mucus layer. If the applied substance has not moved or has only moved very little, this means that the mucous membrane is damaged (due to infections, for example) or that PCD is present.

When examining the cilia function, it is examined under the microscope whether the beating movement of the cilia is normal. To assess this, the doctor checks whether the cilia are moving at the right speed, whether the strokes of the cilia are large enough and whether the cilia work well together (for example, they all move in the same direction and all move at the same time).

The structure of the cilia is examined using an electron microscope. People with PCD often have very specific abnormalities in the structure of the cilia. However, this is not always the case. In one third of people with PCD, the cilia appear to be normally built.

Treatment to reduce complaints

Unfortunately, PCD cannot yet be cured. However, with proper treatment, the complaints can be significantly reduced and the risk of complications or permanent damage to the lungs can be reduced. With the help of physiotherapy and medication, the mucus from the lungs can be thinned and removed. Infections should be prevented as much as possible with an annual flu vaccination, maintenance treatment with a low dose of antibiotics and a healthy lifestyle. If an infection does occur, it must be treated promptly with antibiotics. Men who suffer from PCD and are infertile or with reduced fertility can now often have children with modern treatment methods. People with PCD have a normal life expectancy.

PCD is a chronic disease that can significantly affect daily life. However, timely diagnosis, proper treatment and a healthy lifestyle can greatly improve the quality of life.

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