Ehlers-Danlos Syndrome in Athletes

Abstract

Ehlers-Danlos syndrome (EDS) should be considered in the evaluation of the hypermobile athlete. EDS is a group of inheritable connective tissue disorders affecting collagen and is characterized by articular hypermobility, skin extensibility, and tissue fragility. The most common findings in the active athlete are joint pain or instability, tissue fragility, or joint dislocations. Other common findings include "cigarette paper" scarring over bony prominences, pes planus, mitral valve prolapse, hyperelastic thin skin, and internal organ involvement. The vascular type has an increased risk of sudden death secondary to catastrophic events such as aortic or visceral rupture. Although there are some genetic laboratory tests currently available, a careful history and physical examination are most helpful in diagnosing athletes with this disorder. Previous classification systems were confusing, but the 1997 revised nosology simplified the classification of EDS into six types (three major, three minor). Preparticipation cardiothoracic and orthopedic screening is highly recommended for athletes with EDS, and appropriate cardiovascular, orthopedic, gastrointestinal, neurologic, and dermatologic management can often allow patients with EDS to remain active.