Ehlers-Danlos syndrome.

Twenty patients with the Ehlers-Danlos syndrome, (10 type I, six type II, and four type IV) were studied to assess the frequency of respiratory abnormalities in this condition. Five patients (25%) had had at least one episode of haemoptysis, but none had any defect of coagulation. There was a high frequency of recurrent sinusitis, notably in those with the type I syndrome. Two patients had bullous lung disease, one of whom (type IV) had had three pneumothoraces and subsequent pleurodesis; he also had tracheomegaly (the Mounier-Kuhn abnormality). Minor skeletal abnormalities such as pectus excavatum were common, particularly in patients with type IV disease. Three patients had the straight back syndrome. There were no consistent spirometric or lung volume abnormalities, but eight patients (40%) had a raised gas transfer coefficient (Kco), possibly due to an increased intrapulmonary vascular volume. Two other patients had very low values of Kco that were unexplained. The Ehlers-Danlos syndrome is an inherited defect of connective tissue characterised by soft and hyperextensible thin skin, hypermobile joints, and a particular tendency to bruising and bleeding. Other associated abnormalities include hernias, varicose veins, large arterial rupture, mitral valve prolapse, various ophthalmic complications, and obstetric problems such as premature rupture of the membranes and perineal tears.' Eight or more clinical types are currently recognised2 and specific biochemical abnormalities of collagen are known in Ehlers-Danlos syndrome types II, III, V, VI, and VII (table 1) .3 There is no evidence to suggest abnormalities of elastin or other connective tissue components, although an abnormality of fibronectin has been described in type VIII.4 No systematic study of pulmonary abnormalities in this group of disorders has been reported, although there have been several individual case reports describing pneumothoraces or bullae'5 -12 and haemoptysise 93'8 We have undertaken a study of the clinical features and lung function of a group of patients with Ehlers-Danlos syndrome types I, II, and IV. Address for reprint requests: Dr Jon Ayres, Department of Chest Medicine, East Birmingham Hospital, Birmingham B9 5ST. Accepted 10 December 1984 Patients and methods Twenty five patients with type I, II, or IV EhlersDanlos syndrome attending outpatients at Northwick Park Hospital, Harrow, were contacted by letter asking if they would be prepared to take part in the study. Eighteen agreed, the remaining two patients in the study having been diagnosed at Guy's Hospital. Age, sex, and Ehlers-Danlos syndrome type are shown in table 2. Eleven were male (aged 11-45 years) and nine female (aged 15-45 years). Patients 2 and 3 are the children of patient 1, patient 18 the daughter of patient 17, and patient 8 the son of patient 7. Each patient gave a full medical history, answered a modified Medical Research Council respiratory questionnaire, and underwent clinical examination. Measurements were made of FEVy, forced vital capacity (FVC), and peak expiratory flow rate (PEFR) by standard methods before and after inhalation of bronchodilator. Total lung capacity (TLC) and residual volume (RV) were measured in a body plethysmograph.20 Transfer factor for carbon monoxide, both total (TLCo) and corrected for lung volume (Kco), were measured by the single breath method and alveolar volume by helium dilution. Maximal expiratory and inspiratory flow-volume curves were obtained by using an Ohio spirometer 300 group.bmj.com on October 20, 2017 Published by http://thorax.bmj.com/ Downloaded from