Skip to main content
PMC home page
Thorax logoLink to Thorax
. 1985 Apr;40(4):300–305. doi: 10.1136/thx.40.4.300

Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome.

J G Ayres, F M Pope, J F Reidy, T J Clark
PMCID: PMC460052  PMID: 4023980

Abstract

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.

Full text

PDF
300

Images in this article

302Image
on p.302
302Image
on p.302

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aaby G. V., Blake H. A. Tracheobronchiomegaly. Ann Thorac Surg. 1966 Jan;2(1):64–70. doi: 10.1016/s0003-4975(10)66538-1. [DOI] [PubMed] [Google Scholar]
  2. André R., Duhamel G., Vergoz D., Lavallée R. Incidences hémorragiques et viscérales de la maldie d'Ehlers-Danlos. Bull Mem Soc Med Hop Paris. 1965 Jun 11;116(10):971–976. [PubMed] [Google Scholar]
  3. Arneson M. A., Hammerschmidt D. E., Furcht L. T., King R. A. A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function. JAMA. 1980 Jul 11;244(2):144–147. [PubMed] [Google Scholar]
  4. Ayres J., Rees J., Cochrane G. M. Haemoptysis and non-organic upper airways obstruction in a patient with previously undiagnosed Ehlers-Danlos syndrome. Br J Dis Chest. 1981 Jul;75(3):309–310. doi: 10.1016/0007-0971(81)90011-5. [DOI] [PubMed] [Google Scholar]
  5. Bauer E. A., Uitto J. Collagen in cutaneous diseases. Int J Dermatol. 1979 May;18(4):251–270. doi: 10.1111/j.1365-4362.1979.tb01926.x. [DOI] [PubMed] [Google Scholar]
  6. Baumer J. H., Hankey S. Transient pulmonary cysts in an infant with the Ehlers-Danlos syndrome. Br J Radiol. 1980 Jun;53(630):598–599. doi: 10.1259/0007-1285-53-630-598. [DOI] [PubMed] [Google Scholar]
  7. Beighton P. Lethal complications of the Ehlers-Danlos syndrome. Br Med J. 1968 Sep 14;3(5619):656–659. doi: 10.1136/bmj.3.5619.656. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. COVENTRY M. B. Some skeletal changes in the Ehlers-Danlos syndrome. A report of two cases. J Bone Joint Surg Am. 1961 Sep;43-A:855–860. [PubMed] [Google Scholar]
  9. Cavanaugh M. J., Cooper D. M. Chronic pulmonary disease in a child with the Ehlers-Danlos syndrome. Acta Paediatr Scand. 1976 Nov;65(6):679–684. doi: 10.1111/j.1651-2227.1976.tb18002.x. [DOI] [PubMed] [Google Scholar]
  10. Clark J. G., Kuhn C., 3rd, Uitto J. Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies. Am Rev Respir Dis. 1980 Dec;122(6):971–978. doi: 10.1164/arrd.1980.122.6.971. [DOI] [PubMed] [Google Scholar]
  11. Cordier J. F., Ardisson P., Touraine R. Le syndrome d'Ehlers-Danlos. Une cause rare d'hémoptysie] Nouv Presse Med. 1981 May 16;10(22):1847–1847. [PubMed] [Google Scholar]
  12. Cupo L. N., Pyeritz R. E., Olson J. L., McPhee S. J., Hutchins G. M., McKusick V. A. Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias. Am J Med. 1981 Dec;71(6):1051–1058. doi: 10.1016/0002-9343(81)90341-7. [DOI] [PubMed] [Google Scholar]
  13. DUBOIS A. B., BOTELHO S. Y., COMROE J. H., Jr A new method for measuring airway resistance in man using a body plethysmograph: values in normal subjects and in patients with respiratory disease. J Clin Invest. 1956 Mar;35(3):327–335. doi: 10.1172/JCI103282. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Davies M. K., Mackintosh P., Cayton R. M., Page A. J., Shiu M. F., Littler W. A. The straight back syndrome. Q J Med. 1980 Autumn;49(196):443–460. [PubMed] [Google Scholar]
  15. Gibson G. J., Pride N. B. Lung distensibility. The static pressure-volume curve of the lungs and its use in clinical assessment. Br J Dis Chest. 1976 Jul;70(3):143–184. doi: 10.1016/0007-0971(76)90027-9. [DOI] [PubMed] [Google Scholar]
  16. Graf C. J. Spontaneous carotid-cavernous fistula. Ehlers-Danlos syndrome and related conditions. Arch Neurol. 1965 Dec;13(6):662–672. doi: 10.1001/archneur.1965.00470060098011. [DOI] [PubMed] [Google Scholar]
  17. Grant A. K., Aldor T. A. Haemorrhage into the upper part of the gastro-intestinal tract in three patients with heritable disorders of connective tissue. Australas Ann Med. 1967 Feb;16(1):75–79. doi: 10.1111/imj.1967.16.1.75. [DOI] [PubMed] [Google Scholar]
  18. Himalstein M. R., Gallagher J. C. Tracheobronchiomegaly. Ann Otol Rhinol Laryngol. 1973 Mar-Apr;82(2):223–227. doi: 10.1177/000348947308200222. [DOI] [PubMed] [Google Scholar]
  19. JACOBS P. H. Ehlers-Danlos syndrome; report of a case with onset at age 29. AMA Arch Derm. 1957 Oct;76(4):460–462. doi: 10.1001/archderm.1957.01550220068013. [DOI] [PubMed] [Google Scholar]
  20. Krane S. M., Pinnell S. R., Erbe R. W. Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. Proc Natl Acad Sci U S A. 1972 Oct;69(10):2899–2903. doi: 10.1073/pnas.69.10.2899. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Lipscomb D. J., Patel K., Hughes J. M. Interpretation of increases in the transfer coefficient for carbon monoxide (TLCO/VA or KCO). Thorax. 1978 Dec;33(6):728–733. doi: 10.1136/thx.33.6.728. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. MACFARLANE I. L. Ehlers-Danlos syndrome presenting certain unusual features. J Bone Joint Surg Br. 1959 Aug;41-B:541–545. doi: 10.1302/0301-620X.41B3.541. [DOI] [PubMed] [Google Scholar]
  23. Mire B., Ledoux A., Hoeffel J. C. Dystrophie pulmonaire bulleuse au cours d'une maladie d'Ehlers-Danlos. A propos d'une observation. Ann Radiol (Paris) 1976 Nov;19(7):721–724. [PubMed] [Google Scholar]
  24. O'Neill S., Sweeney J., Walker F., O'Dwyer W. F. Pneumothorax in the Ehlers-Danlos syndrome. Ir J Med Sci. 1981 Feb;150(2):43–44. doi: 10.1007/BF02938195. [DOI] [PubMed] [Google Scholar]
  25. PACKER B. D., BLADES J. F. Dermatorrhexis: a case report; the so-called Ehlers-Danlos syndrome. Va Med Mon (1918) 1954 Jan;81(1):27–30. [PubMed] [Google Scholar]
  26. Pope F. M., Martin G. R., Lichtenstein J. R., Penttinen R., Gerson B., Rowe D. W., McKusick V. A. Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci U S A. 1975 Apr;72(4):1314–1316. doi: 10.1073/pnas.72.4.1314. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. RAWLINGS M. S. The "straight back" syndrome, a new cause of pseudoheart disease. Am J Cardiol. 1960 Mar;5:333–338. doi: 10.1016/0002-9149(60)90080-1. [DOI] [PubMed] [Google Scholar]
  28. ROBITAILLE G. A. EHLERS-DANLOS SYNDROME AND RECURRENT HEMOPTYSIS. Ann Intern Med. 1964 Oct;61:716–721. doi: 10.7326/0003-4819-61-4-716. [DOI] [PubMed] [Google Scholar]
  29. Rudd N. L., Nimrod C., Holbrook K. A., Byers P. H. Pregnancy complications in type IV Ehlers-Danlos Syndrome. Lancet. 1983 Jan 1;1(8314-5):50–53. doi: 10.1016/s0140-6736(83)91577-5. [DOI] [PubMed] [Google Scholar]
  30. Smit J., Alberts C., Balk A. G. Pneumothorax in the Ehlers-Danlos syndrome: consequence of coincidence? Scand J Respir Dis. 1978 Oct;59(5):239–242. [PubMed] [Google Scholar]
  31. Turner-Stokes L., Turton C., Pope F. M., Green M. Emphysema and cutis laxa. Thorax. 1983 Oct;38(10):790–792. doi: 10.1136/thx.38.10.790. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Wanderer A. A., Ellis E. F., Goltz R. W., Cotton E. K. Tracheobronchiomegaly and acquired cutis laxa in a child. Physiologic and immunologic studies. Pediatrics. 1969 Nov;44(5):709–715. [PubMed] [Google Scholar]
  33. Wood J. R., Bellamy D., Child A. H., Citron K. M. Pulmonary disease in patients with Marfan syndrome. Thorax. 1984 Oct;39(10):780–784. doi: 10.1136/thx.39.10.780. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Thorax are provided here courtesy of BMJ Publishing Group

RESOURCES