马方综合征患者的医疗史

作     者：Hirtzlin I. Kiyeila Loubaki F. Jondeau G. 高登峰 

作者机构：Univ. de Paris 1 (Pantheon Sorbonne) 90 rue de Tolbiac 75 013 Paris France Dr. 

出 版 物：《世界核心医学期刊文摘（心脏病学分册）》 (Digest of the World Core Medical Journals(Cardiology))

年 卷 期：2005年第1卷第2期

页      面：18-19页

学科分类：1002[医学-临床医学] 10[医学] 

主　　题：马方综合征 外科治疗手段 家系调查 眼部症状 临床症状 协同合作 

摘      要：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 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 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 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 Marfans 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.