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The life expectancy of patients with Marfans 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 ma ny specialities complicate the medical history of patients, which is largely unk nown. The authors sent a self administered questionnaire to 1 353 patients with Marfans syndrome to obtain this information. Of the 430 questionnaires return ed, as many by men as by women, the diagnosis of the disease was made in less th an 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. T he delay between the first symptoms of the disease and first medical consultatio n (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 popu lation 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 de lays are long. When the diagnosis of Marfans syndrome is made following consul tation for an unrelated condition, it is more often delayed and the patient is u sually older. The delay in diagnosis observed could be shortened by systematic familial enquiries and better inform ation to physicians who could then suspect the diagnosis before the advent of cl inical symptoms.
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 maty specialties complicate the medical history of patients, which is largely unk nown. The authors sent a self-regulatory questionnaire to 1 353 patients with Marfan’s syndrome to obtain this information. Of the 430 questionnaires return ed, as many by men as by women, the diagnosis of the disease was made in less th an half the cases by clinical symptoms (42%): the investigation of an unrelated clinical problem (39%) or a family inquiry (19%) also led to the diagnosis. T he delay between the first symptoms of the disease and first medical consultatio n (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 popu lation could be divided into two groups s, one with rapid access to the physician (<1 year) and to the diagnosis (<3 years) and the second group in which the de lays are long. When the diagnosis of Marfan’s syndrome is made the following consul tation for an unrelated condition, it is more often delayed and the patient is u sually older. The delay in diagnosis observed could be shortened by systematic familial inquiries and better inform ation to physicians who could then suspect the diagnosis before the advent of cl inical symptoms.