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Quantifying Health Status and Function in Marfan Syndrome
Sandesh S Rao1, Kristen D Venuti, Harry C Dietz
1Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, Maryland.
Journal of Surgical Orthopaedic Advances
|April 16, 2016
Summary
Patients with Marfan syndrome report significant impacts on quality of life, with cardiac issues and back pain being primary concerns. Their physical health scores are notably lower than general population norms.
Area of Science:
- Medical research
- Patient-reported outcomes
- Quality of life studies
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue.
- Understanding the patient experience is crucial for comprehensive care.
Purpose of the Study:
- To evaluate the quality of life and functional status of patients with Marfan syndrome.
- To identify the primary health concerns and pain levels experienced by these patients.
Main Methods:
- Prospective enrollment of 230 patients.
- Utilized the Short Form 36 (SF-36) and a study-specific visual analog scale (VAS) questionnaire.
- Assessed quality of life, function, pain, and work impact.
Main Results:
- Cardiac problems (70%) and spine issues/fatigue (53%) were major concerns.
- Back pain was severe in 46% of patients (VAS 6-10).
- Work hours were reduced for 82% due to treatment and 40% due to Marfan syndrome.
- SF-36 scores were significantly lower than US norms, with physical health scores lower than mental health scores.
Conclusions:
- Marfan syndrome significantly impairs patients' quality of life and physical function.
- Cardiac and spinal issues, along with pain and reduced work capacity, are key challenges.
- Interventions should address these multifaceted impacts to improve patient well-being.
