Williams–Campbell Syndrome - An Overview

Introduction

Williams-Campbell syndrome (WCS) was first described by Williams and Campbell et al. in 1960. It is a rare form of bronchiectasis, which is a copious accumulation of mucus in the air sacs of the lungs. It is considered to be a rare congenital cystic lung disease and is excluded from the common causes of bronchiectasis.

What Is Williams-Campbell Syndrome?

Williams-Campbell syndrome is a rare birth disorder that happens due to missing cartilage in the part of the bronchi causing the collapse of distal airways and constant dilation of the bronchi, bronchioles affecting the smaller bronchial divisions. The generic basis of Williams-Campbell syndrome involves mutations or abnormalities in certain genes that can be a cause of the development of the respiratory condition. In particular, these abnormalities are related to the defects during the development of the bronchial cartilage, causing underdevelopment or complete absence of some airways in the lungs. The specific genes involved in Williams-Campbell syndrome are not well defined, and further understanding of the genetic component is needed.

What Are the Symptoms of Williams-Campbell Syndrome?

The clinical presentation of Williams-Campbell syndrome shows symptoms that are seen in other lung diseases as well, which are -

1. Individuals with WCS often have persistent, long-standing coughs, which are the earliest symptoms.

2. Such individuals suffer from recurrent and repeated respiratory infections due to the compromised airways.

3. During the moments of high energy demand, such as physical activities, patients may have difficulty in breathing.

4. Wheezing sounds are audible when the person is breathing, which is the result of blocked or narrowed airway passages.

5. Some cases may show failure to thrive in infancy, which can lead to inadequate growth and weight gain.

6. Recurrent episodes of pneumonia may happen.

7. Like other chronic respiratory conditions, WCS also shows abnormal enlargement of fingertips and toes.

How Is the Diagnosis of Williams-Campbell Syndrome Made?

Since the clinical presentation and the symptoms are similar to all other long-term respiratory conditions, the diagnosis cannot be merely made by relying upon them. Lab investigations and other diagnostic tools are mandatory to make the final diagnosis as WCS. The examination tools for the condition include -

• Bronchoscopy - Bronchoscopy helps to give the pathology of the affected bronchi where the deficiency in cartilaginous plates in the bronchi is seen. This is considered as confirmation WCS. However, this biopsy has severe complications and is not done in all cases.

• HRCT (High-Resolution Computed Tomography) - Being the non-invasive method, this is considered to be the diagnostic tool of choice, which reveals the absence of bronchial cartilage.

• Chest X-rays - Chest X-rays can also be considered a good tool for the diagnosis of WCS. On X-rays, the lungs are seen to be overinflated if the person has WCS.

• Genetic Testing - While it may not always be essential for diagnosis, genetic testing may be done in order to identify the particular gene mutations that are associated with Williams-Campbell syndrome.

What Are the Diseases That Can Have a Similar Presentation To WCS?

Some conditions that are similar to WCS and considered as differential diagnosis are -

• Cystic Fibrosis- It involves thickened mucus production, leading to airway blockade. It can be distinguished from WCS by sweat test, which is negative for WCS but positive for cystic fibrosis.

• Primary Ciliary Dyskinesia - It is a genetic condition affecting the cilia (finger-like minute projections lining the respiratory tract) that has similarities with WCS in terms of respiratory symptoms.

• Congenital Lobar Emphysema - It is a rare condition where one or more lobes of the lungs show inflation.WCS and CLE have the same clinical presentation.

• Allergic Bronchopulmonary Aspergillosis - It is a respiratory condition that is stimulated by the allergic reaction caused by the fungus Aspergillus. It shows symptoms similar to WCS. The difference is that the former condition is acquired and not inherited, while, as in WCS, the condition is genetical.

What Is the Prognosis of Williams-Campbell Syndrome?

The untreated William Campbell syndrome can lead to complications such as chronic respiratory symptoms, pulmonary function impairment, failure to thrive in kids, recurrent pneumonia, and enlargement of fingertips and toes. The prognosis can vary in context to the extremeness of condition, the percentage involvement of the airway, and the effectiveness of management protocols. While the WCS is a long-term and progressive condition, the diagnosis and early intervention can help improve the symptoms.

What Are the Management Strategies of Williams-Campbell Syndrome?

It should be noted that the condition has no treatment or cure, but it can be managed by treating the clinical symptoms so the individual can live a quality life. The management is mainly focused on addressing respiratory symptoms and avoiding complications. The management strategies include-

1. Providing general supportive care to manage the symptoms. Nutritional support in the individuals who fail to thrive is the utmost thing to take into consideration.

2. In case of indicative respiratory infection, prompt medical attention should be seen so that respiratory communications are avoided at the very initial stage. The doctor may write a prescription of antibiotics to prevent the development of pneumonia or sepsis.

3. Physiotherapy and airway clearance techniques to help remove the mucus and clear the airway should be practiced. This can be done by postural drainage and percussion with the help of a technical specialist.

4. Sometimes, the doctors may prescribe bronchodilators, which help to relax and open up the airways.

5. Oxygen therapy may be advised in some cases to maintain optimum levels of oxygen in the blood.

6. A regular and timely check-up is always important to keep track of progression and improvement.

Conclusion

Like other chronic respiratory conditions, the WCS presents with the symptoms that are seen in all respiratory diseases in general. While other conditions might be curable, this disease does not have a cure. However, the proper management of symptoms may help an individual live a healthy life. The prognosis of the disease can be good in cases where regular monitoring and optimum supportive care are given to individuals. Despite the chronic nature, the early intervention significantly enhanced the outcome.