pediatrics
Ehlers Danlos Syndromes
Diagnosis of Ehlers Danlos Syndromes
Clinical criteria Confirmatory genetic testing Echocardiography and/or other vascular imaging to screen for cardiovascular complications Most but not all types of Ehlers-Danlos syndrome involve one or both of the following: Joint hypermobility Skin hyperextensibility Thus, diagnosis of Ehlers-Danlos syndromes may be suspected in patients who present with complaints such as frequent joint dislocations, poor wound healing, and/or frequent or unusual scarring. However, joint hypermobility is common among the general population. Also, other connective tissue disorders with similar joint and/or skin manifestations (eg, Marfan Syndrome , Screening patients with simple questions regarding joint hypermobility may be helpful ( Diagnosis references ): Can you now, or could you ever, place your hands flat on the floor without bending your knees? Can you now, or could you ever, bend your thumb to touch your forearm? As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits? As a child or teenager, did your kneecap or shoulder dislocate on more than one occasion? Do you consider yourself “double-jointed”? . This tool assesses hypermobility in 4 pairs of joints (5th fingers, thumbs, elbows, knees) and the spine. One point is scored for each joint manifesting the defined hypermobility criterion; a score ≥ 5 is considered to indicate hypermobility ( Diagnosis references ). Skin hyperextensibility is assessed in standardized areas. Skin is considered hyperextensible if it can be stretched > 1.5 cm on the distal forearm and dorsum of the hands, > 3 cm on the neck, elbow, and knees, and > 1 cm on the palm ( Diagnosis references ). There are major and minor clinical criteria for each Ehlers-Danlos type ( Diagnosis references ), typically including presence or absence of joint hypermobility and skin hyperextensibility. However, there is much variability both within and among the different types, and diagnosis should be confirmed by genetic testing, which is now available for most subtypes. Ultrastructural examination of skin biopsy can help in diagnosing the classic, hypermobile, and vascular types. Echocardiography and other vascular imaging are done to check for heart disorders (eg, valvular prolapse, arterial aneurysm) that are associated with some of the types. 1.Hakim AJ, Grahame R: A simple questionnaire to detect hypermobility: An adjunct to the assessment of patients with diffuse musculoskeletal pain.Int J Clin Pract57(3):163–166, 2003. PMID: 12723715 2.The Ehlers-Danlos Society: EDS types: 2017 International Diagnostic Criteria. Accessed 10/11/2022. 