Retrospective and multicentric study of spine evolution of patients with Marfan syndrom

Abstract

This is a national retrospective study realized by the Study Group of Scoliosis (GES) with the support of 7 competence centers about the follow up of the spine for patients with Marfan's disease. The sample consists of 167 patients: 99 women and 67 men. It is composed of children and adults and the mean age is 31 years. In this sample, we find 72% of spine deformity (scoliosis and kyphosis): in the literature, 63% for Sponseller and al, (JBJSa 1995), and 56% for Garreau and al, (JBJS, 2006). The discovery of the spine problem is effective of 12,8 years old (ET = 4,2; range = 1–53). The mean age for the diagnosis of Marfan's disease is 16,4 years old (ET = 14,8; range = 0–65). The treatment for spine deformities is 50% orthopaedic (50% of efficiency) and 30% surgical (47% of complications and 47% of satisfactory results). For this sample, 43% of the patients are a family origin Marfan and 47,6% are Marfan de novo. Only 40% of children-teenagers have a normal schooling. Concerning the adults, 47% have a professional activity and 11,7% are in incapacity and the majority is affected by scoliosis. What can be noted on this study? - the absence of correlation between the occurrence of the scoliosis and the patient phenotypic; no increase of the risk of a scoliosis occurrence if the Marfan disease comes from the family with a known scoliosis; - the spinal profile with a low pelvic incidence, a high frequency of type 1 back of the Roussouly's classification (30%) which increases the risk of mechanical complications during the surgical treatment. The scalability of the scoliosis is fast in juvenile period with a possibility of evolutionary resumption in the adulthood; - a clinical (pain, weakness, quality of life, endurance and muscular strength) and radiological spine evaluation is suggested and is systematic from the discovery of the disease. Then, a regular morphological-skeletal follow-up is to be done during growth. It is necessary to carry with the regular follow-up during adulthood by a functional evaluation and if needed, a social and socio-professional follow-up.