Ehlers-Danlos syndromes refer to a group of genetic connective tissue disorders. Symptoms may be noticeable as early as after birth or during early childhood. These disorders usually occur due to a gene mutation resulting in defects in the processing or structure of collagen.
The diagnosis can be confirmed through a skin biopsy or genetic testing. Misdiagnoses of depression and hypochondriasis may occur. Although there is no cure, supportive treatment is available in the forms of bracing and physical therapy.
While it does not usually affect life expectancy, cases that involve defects in blood vessels can result in a shorter life expectancy. Ehlers-Danlos syndromes affect about 1 in every 5,000 individuals worldwide.
Symptom #1: Painful Bump Below Knee
Osgood-Schlatter disease is a condition that is common among patients with an Ehlers-Danlos syndrome. Also known as apophysitis of the tibial tubercle, it occurs when there is inflammation of the patellar ligament at the tibial tuberosity. This causes a painful bump that is located below the knee. The pain worsens when there is increased activity and improves with rest.
There may be recurring episodes of pain that may last several months affecting one or both knees. To help with the pain, application of cold packs, strengthening and stretching under the direction of a physical therapist, rest, and pain medication are options.