Quantifying Health Status and Function in Marfan Syndrome

Two hundred thirty patients were prospectively enrolled in this study and completed various portions of the Short Form 36 and a study-specific questionnaire (visual analog scale 1 to 10, comprising three separate questionnaires) to evaluate quality of life and function in patients with Marfan syndrome. The greatest health concern was cardiac problems (high in 70% of patients), followed by spine issues and generalized fatigue (both high, in 53%). The most severe reported pain involved the back: 105 patients (46%) rated pain as 6 to 10 on the visual analog scale. Among the 72 patients who responded to work life questions, work hours were reduced because of treatment in 59 (82%) or directly because of Marfan syndrome in 29 (40%). Across all Short Form 36 domains, patients scored significantly lower than United States population norms (p<.05); physical health scores were considerably lower than mental health scores.