[Medical histories of patients with Marfan's syndrome]

The life expectancy of patients with Marfan's syndrome has been increased by over 30 years by modern medico-surgical management but the diagnostic problems related to the multiplicity of symptoms and the necessity of collaboration by many specialities complicate the medical history of patients, which is largely unknown. The authors sent a self-administered questionnaire to 1 353 patients with Marfan's syndrome to obtain this information. Of the 430 questionnaires returned, as many by men as by women, the diagnosis of the disease was made in less than half the cases by clinical symptoms (42%): the investigation of an unrelated clinical problem (39%) or a family enquiry (19%) also led to the diagnosis. The delay between the first symptoms of the disease and first medical consultation (usually cardiological or ophthalmic) was long (5.2 years) as was the interval between the first consultation and the diagnosis (2.8 years). However, the population could be divided into two groups. one with rapid access to the physician (< 1 year) and to the diagnosis (< 3 years) and the second group in which the delays are long. When the diagnosis of Marfan's syndrome is made following consultation for an unrelated condition, it is more often delayed and the patient is usually older. The delay in diagnosis observed could be shortened by systematic familial enquiries and better information to physicians who could then suspect the diagnosis before the advent of clinical symptoms.