Objectives: To facilitate diagnosis, define a strategy for prevention and treatment and obtain further insight concerning Marfan's disease, we conducted a series of multidisciplinary consultations in French clinics.
Patients and methods: Five specialists (a genetics specialist, a pediatrician or a rheumatologist, an ophthalmologist, and a psychologist) saw all the patients successively in the same clinic. A synthesis of the clinical files was prepared for analysis. Since the first consultation on 1 January 1995 and the study end on 30 June 1997, 494 patients (67% adults) participated in primary consultations, 143 were seen at follow-up consultations.
Results: The diagnosis of Marfan's disease was affirmed in 41% of the patients, disaffirmed in 48% and uncertain in 11%. Among the Marfan's patients, 75% were seen again within the framework of a multidisciplinary follow-up consultations. Annual work-up included cardiology (echocardiography with measurement of the proximal aorta diameter in search for indication for beta-blocker therapy or preventive valve replacement), ophthalmology (lens, retina) and rheumatology examinations (skeletal involvement).
Conclusion: Early diagnosis and rigorous follow-up can help prevent ocular and cardiac complications in Marfan's disease. The multidisciplinary approach provides more precise data for diagnosis and possible phenotype-genotype correlations.