Connective Tissue Disorders: Ehlers-Danlos Syndrome

Abstract

Almost every physician is bound to come across patients with connective tissue disorders, especially Ehlers-Danlos syndrome (EDS). These patients present with a cluster of conditions, including chronic joint, muscle, and neuropathic pain; easy fractures; gastrointestinal symptoms; orthostatic intolerance; headaches; spinal pain; urinary symptoms; recurrent joint subluxations and dislocations; and aneurysm. The incidence of EDS is 10 in 100,000. These patients have a genetic defect in their collagen. A weak connective tissue makes the joints hypermobile, causes muscle fatigue, easy bruising, fragile skin, spinal pain, and headaches. The diagnosis is made clinically based on a medical history and clinical examination. It does not depend on genetic testing. The Beighton score has been the most widely accepted for diagnosing EDS. It has proven to be a very consistent screening tool. The most common symptom patients present with is pain. They have increased pain at different stages of their life; as adolescents, they have growing pains. These pains are usually worse during periods of growth spurt. The pain is intense and usually in the lower extremity around the knees, and they have leg cramps, especially at night. Concerned parents are told to ignore it, and no specific treatment is offered to these children. As adults, patients present with a more specific pain to either a region or the spine. Musculoskeletal pain is most commonly around the neck, upper back, hips, legs, and forearms. In most cases, the pain is around the weight-bearing muscles, such as the legs and spine. Patients with EDS present with both nociceptive (structural) and neuropathic pain; in some cases, the neuropathic pain component may be more prominent than the nociceptive component and vice versa. One of the major issues in EDS is a loss of proprioception, also known as joint position sense. Proprioception is the ability of a joint to determine its position, detect movement, and sense resistance to force. EDS is associated with other coexisting conditions, such as postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), Chiari malformation, and tethered cord syndrome. Significant fatigue is a common feature in EDS. The reason for fatigue may be an abnormality of the muscle structure, POTS, MCAS, and excessive dependence on muscles to maintain posture in light of ligamentous laxity.