Case 1 Follow-up
You diagnose Jennifer with Probable hEDS. You get an echocardiogram and an ophthalmologic exam, which are both normal, making a diagnosis of Marfan syndrome unlikely. You discuss possible referral to a genetic counselor with her family, but decide against referral due to the normal exams. The consensus with the family following the meeting is that Jennifer has a presentation consistent with hEDS, for which she meets the 2017 international diagnostic criteria. You refer Jennifer to occupational and physical therapy with an emphasis on postural stabilization and joint protection, avoiding most resistance and isometric exercises. She follows up in 1 month and describes mild improvement in her symptoms. You decide to continue with the current management.
Case 2 Follow-up
You diagnose Sonja with HSD and refer her to a physical therapist with experience working with HSD patients, to focus on core stability and exercise tolerance.
Additionally, she enters a course of osteopathic manipulative treatment, twice monthly for 3 months, and is restarted on and titrated to a higher dose of duloxetine (60 mg/d) to address central pain sensitization and improve mood. She is referred for cognitive-behavioral therapy (CBT) to address anxiety and improve coping strategies.
On follow-up 3 months later, she reports significant improvement, with resolution of headaches and brain fog. Her fatigue has improved but not resolved. She continues to suffer from neck and back pain, though with decreased severity and frequency. She feels optimistic that with continued physical therapy, CBT, adequate rest, progressive exercise, and osteopathic treatment, she has found a path forward that promises to empower her to manage her symptoms. She understands that HSD will make her more prone to repetitive stress injury and the importance of maintaining an active lifestyle, including regular stability and core strengthening.