Symptoms assessment and the physiotherapy role in Marfan syndrome patients

Introduction
Background: Marfan syndrome is a genetic connective tissue disorder. Organ involvement in the course of Marfan syndrome affects the entire body, influencing physical performance and quality of life.

Aims
The aim of this study was to assess symptoms and the role of physiotherapy among patients with Marfan syndrome, as well as to determine which rehabilitation methods are the most effective in improving motor function and daily functioning.

Materials and Methods
Materials and Methods: The survey included 54 participants aged 18–56 years. Eligibility criteria were a confirmed diagnosis of Marfan syndrome and age ≥18 years. The questionnaire contained questions regarding everyday symptoms and treatment methods used.

Results
The largest age group was 20–40 years (74%). According to the findings, the most common musculoskeletal problems were joint hypermobility (74%) and spinal pain (74%). More than 50% of participants reported using physiotherapy, with the most frequently mentioned methods being individual therapy, manual therapy, massage, and therapeutic exercises.

Conclusions
Patients with Marfan syndrome most frequently reported complaints related to the musculoskeletal, cardiovascular, and visual systems. Among physiotherapy interventions, patients indicated the greatest perceived effectiveness for individual therapy, manual therapy, massage, and exercise-based programs.