RESUMO
The hypermobile Ehlers-Danlos syndrome (hEDS) GENE study is a multicenter, cohort study with the goal to identify genes associated with hypermobile EDS. Of the 148 people enrolled in the hEDS GENE study, 98 meet the 2017 hEDS criteria, 27 have a hypermobility spectrum disorder (HSD) and 23 are asymptomatic family members. More than 80% of participants are female with an average age of 41 years. Each participant has completed seven questionnaires to quantify disease-related symptomatology. People with hypermobility experience a variety of physical and somatic symptoms, especially in the areas of fatigue, kinesiophobia, gastrointestinal, and autonomic function. These cause a significant decrease in health-related quality of life. The frequency and severity of most symptoms were indistinguishable between participants with hEDS and HSD; however, there were significant differences in autonomic symptoms. Less than 20% of participants had autoantibodies known to be associated with dysautonomia. Subtle symptomatic differences in people meeting the 2017 diagnostic criteria suggest focusing further etiologic studies on autonomic pathways.
Assuntos
Síndrome de Ehlers-Danlos/genética , Fadiga/genética , Instabilidade Articular/genética , Disautonomias Primárias/genética , Adolescente , Adulto , Estudos de Coortes , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/epidemiologia , Síndrome de Ehlers-Danlos/patologia , Fadiga/diagnóstico , Fadiga/epidemiologia , Fadiga/patologia , Feminino , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/epidemiologia , Instabilidade Articular/patologia , Masculino , Disautonomias Primárias/diagnóstico , Disautonomias Primárias/epidemiologia , Disautonomias Primárias/patologia , Qualidade de Vida , Inquéritos e Questionários , Adulto JovemRESUMO
Introduction: Rectus abdominis muscle strains are common and can be debilitating in both professional and amateur athletes who engage in strenuous activity. Case Report: We report a rare case of rectus abdominis muscle tear in an amateur bodybuilder diagnosed by point-of-care ultrasound (POCUS) in the emergency department (ED). The patient had presented to the ED three separate times after strenuous exercise, received costly diagnostic workups, and ultimately was diagnosed on the third visit with grade 2 bilateral rectus abdominis tear. The patient was given appropriate education and sports medicine follow-up. He underwent rehabilitation focused on trunk and core stability. At eight-week follow-up, the patient had made a full recovery. Conclusion: To our knowledge, a case of bilateral rectus abdominis tear diagnosed by ultrasound in the emergency setting has not been previously published. Our case report highlights the utility of POCUS in diagnosing musculoskeletal pathology and preventing costly bounce-back visits.