B. Chevallier et al., CONTRIBUTION OF A MULTIDISCIPLINARY CONSULTATION FOR THE DIAGNOSIS OFMARFANS-SYNDROME, La Presse medicale, 27(28), 1998, pp. 1424-1426
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 cli
nics. PATIENTS AND METHODS: Five specialists (a genetics specialist, a
pediatrician or a rheumatologist, an ophthalmologist, and a psycholog
ist) saw all the patients successively in the same clinic A synthesis
of the clinical files was prepared for analysis. Since the first consu
ltation on 1 January 1995 and the study end on 30 June 1997, 494 patie
nts (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 f
ramework of a multidisciplinary follow-up consultations. Annual work-u
p included cardiology (echocardiography with measurement of the proxim
al aorta diameter in search for indication for beta-blocker therapy or
preventive valve replacement), ophthalmology (lens, retina) and rheum
atology examinations (skeletal involvement). CONCLUSION: Early diagnos
is and rigorous follow-up can help prevent ocular and cardiac complica
tions in Marfan's disease. The multidisciplinary approach provides mor
e precise data for diagnosis and possible phenotype-genotype correlati
ons.