Williams–Campbell syndrome

Williams–Campbell syndrome (WCS) is a disease of the airways where cartilage in the bronchi is defective. It is a form of congenital cystic bronchiectasis. This leads to collapse of the airways and bronchiectasis.[1] It acts as one of the differential to Allergic bronchopulmonary aspergillosis. WCS is a deficiency of the bronchial cartilage distally.[2]

Williams–Campbell syndrome
Other names	Bronchomalacia
Usual onset	Typically childhood
Causes	Genetic mutation
Risk factors	Family history
Diagnostic method	Diagnosis of exclusion, Bronchoscopy
Prevention	None
Treatment	Lung transplantation
Frequency	Unknown but extremely rare

Symptoms

1. Persistent cough
2. Wheeze
3. Impaired lung function[2]

Pathology

It is thought to result from a deficiency of cartilage formation in the 4th to 6th order segmental bronchi.[3]

Diagnosis

Most described cases present sporadically in early childhood.[3] However, some have been diagnosed as late as adulthood.[4][5][6] Due to its rarity it presents a difficulty in adult diagnoses, and its initial presentation can be confused with septic shock.[7]

Diagnosis requires an appropriate clinical history, the characteristic expiratory airway collapse on radiological investigation, and exclusion of other causes of congenital and acquired bronchiectasis. Pathology of the affected bronchi by bronchoscopy showing the deficiency of cartilaginous plates in the bronchial wall is the confirmatory test.[3] However, lung biopsy has several complications and is not always diagnostic.

Considering its non-invasive methodology, facility of execution, and good patient tolerance, multi-slice spiral CT or CT bronchoscopy should be the test of choice to study cystic lung diseases in particular WCS.[3]

Radiologically, the lungs are overinflated, and on bronchoscopy bronchomalacia is demonstrated.[2]

Treatment

In 2011, Hacken et al. conducted a systematic review, aiming to answer what are the effects of treatments in people with bronchiectasis but without cystic fibrosis. There are not enough studies to prove if bronchopulmonary hygiene, physical therapy, mucolytics, inhaled hyperosmolar agents, oral corticosteroids, leukotriene receptor antagonists, short-acting beta 2 agonists, long-acting beta 2 agonists, or anticholinergic therapy is beneficial.[8] However, there are some promising results in other approaches.

Lung transplantation

This was previously attempted in a patient with end-stage lung disease secondary to WCS. Although the patient did not have proximal airway collapse prior to transplantation, his posttransplant course was complicated by the development of bronchomalacia of the right and left mainstem bronchi. The patient experienced recurrent pulmonary infections and died of bacterial pneumonia one year after transplantation.[1]

In 2012, the first WCS patient lung transplant with prolonged survival (approaching 10 years) was reported.[9]

Lobectomy

Surgery to remove part of the lungs is often considered for people with extreme damage to one or two lobes of the lung who are at risk of severe infection or bleeding. However, surgery in two patients, one given a triple lobectomy and the other a right upper lobectomy, resulted in severe respiratory failure.[10]

Medicine

WCS is an obstructive disorder that shares some similarities with chronic obstructive pulmonary disorder (COPD).[3] Non-invasive positive pressure ventilation (NPPV) has been reported to improve chronic respiratory failure in patients with bronchiectasis.[3] NPPV combined with long-term home oxygen therapy decreases carbon dioxide retention and improves dyspnea in hypercapnic COPD.[3] Moreover, long-term NPPV may decrease acute exacerbation and recurrent hospitalization.[3] There are case reports that NPPV may have an advantage in adult patients with WCS who have severe respiratory failure and recurrent pulmonary infections.[11]

History

It was described in 1960 by Howard Williams and Peter Campbell. They described a case study of five children with similar clinical and radiological symptoms, and proposed that the abnormal development of cartilage in bronchial tree was responsible for this presentation.[12]

In 1976, the first report of the occurrence of familial bronchiectasis in siblings was published, and it supported the theory that WCS was congenital, based on the uniformity of the cartilaginous defect.[13][9][10] It may have been the result of an autosomal recessive mutation, but the specific gene has not yet been identified.[3]

References

1. Palmer SM, Layish DT, Kussin PS, Oury T, Davis RD, Tapson VF (February 1998). "Lung transplantation for Williams-Campbell syndrome". Chest. 113 (2): 534–7. doi:10.1378/chest.113.2.534. PMID 9498979.
2. Williams, H.; Campbell, P. (1960-04-01). "Generalized Bronchiectasis associated with Deficiency of Cartilage in the Bronchial Tree". Archives of Disease in Childhood. 35 (180): 182–191. doi:10.1136/adc.35.180.182. ISSN 0003-9888. PMC 2012546. PMID 13844857.
3. Noriega Aldave AP, William Saliski D (September 2014). "The clinical manifestations, diagnosis and management of williams-campbell syndrome". North American Journal of Medical Sciences. 6 (9): 429–32. doi:10.4103/1947-2714.141620. PMC 4193147. PMID 25317385.
4. Williams HE, Landau LI, Phelan PD (June 1972). "Generalized bronchiectasis due to extensive deficiency of bronchial cartilage". Archives of Disease in Childhood. 47 (253): 423–8. doi:10.1136/adc.47.253.423. PMC 1648115. PMID 5034672.
5. Mitra S, Chowdhury AR, Bandyopadhyay G (2015). "Williams-Campbell syndrome-a rare entity of congenital bronchiectasis: A case report in adult". International Journal of Medical Research & Health Sciences. 4 (4): 913. doi:10.5958/2319-5886.2015.00185.X.
6. Jones QC, Wathen CG (September 2012). "Williams-Campbell syndrome presenting in an adult". BMJ Case Reports. 2012: bcr2012006775. doi:10.1136/bcr-2012-006775. PMC 4544030. PMID 22989422.
7. Sedarati K, Aksenov I (October 2016). "Deadly Complications of the Williams-Campbell Syndrome With Initial Presentation as Septic Shock in an Adult". Chest. 150 (4): 533A. doi:10.1016/j.chest.2016.08.547.
8. Ten Hacken NH, Kerstjens HA (August 2011). "Bronchiectasis". BMJ Clinical Evidence. 2011: 1507. PMC 3275315. PMID 21846412.
9. Burguete SR, Levine SM, Restrepo MI, Angel LF, Levine DJ, Coalson JJ, Peters JI (September 2012). "Lung transplantation for Williams-Campbell syndrome with a probable familial association". Respiratory Care. 57 (9): 1505–8. doi:10.4187/respcare.01484. PMC 4066632. PMID 22348466.
10. Jones VF, Eid NS, Franco SM, Badgett JT, Buchino JJ (October 1993). "Familial congenital bronchiectasis: Williams-Campbell syndrome". Pediatric Pulmonology. 16 (4): 263–7. doi:10.1002/ppul.1950160410. PMID 8265276.
11. Wada H, Seto R, Yamada H, Nagao T, Hajiro T, Nakano Y (2011). "Respiratory failure of Williams-Campbell syndrome is effectively treated by noninvasive positive pressure ventilation". Internal Medicine. 50 (16): 1729–32. doi:10.2169/internalmedicine.50.4971. PMID 21841334.
12. Williams H, Campbell P (April 1960). "Generalized bronchiectasis associated with deficiency of cartilage in the bronchial tree". Archives of Disease in Childhood. 35 (180): 182–91. doi:10.1136/adc.35.180.182. PMC 2012546. PMID 13844857.
13. Wayne KS, Taussig LM (July 1976). "Probable familial congenital bronchiectasis due to cartilage deficiency (Williams-Campbell syndrome)". The American Review of Respiratory Disease. 114 (1): 15–22. doi:10.1164/arrd.1976.114.1.15 (inactive 2020-01-22). PMID 937831.

External links

Classification	D OMIM: 211450