E54 The Ehlers-Danlos syndrome, a disease of late diagnosis: report two cases

Abstract

Abstract Introduction Ehlers-Danlos syndromes (EDS) are a heterogeneous group of rare inherited collagen disorders. Clinical signs are dominated by generalized joint hyper laxity, skin hyper elasticity and tissue fragility. The diagnosis is clinical in the absence of genetic testing. There is no curative treatment but it is possible today to improve the quality of life of these patients. We report two cases of EDS from a non-consanguineous marriage, without similar cases in their families. Observations CASE 1: Mrs N.B, 31 years old, 2nd of 4 siblings, with a history of heterozygous beta thalassemia, she presented with mechanical gonalgias secondary to patellar dislocations associated with ankle sprains since the age of 5 years. On clinical examination: generalized hyper mobility (Beighton score 9/9), hyper elasticity of the skin, skin fragility, atrophic scarring, papery skin of the knees, hyper transparency of the skin, epistaxis at the slightest scratching, the rest of the somatic examination was unremarkable. The standard biological workup, X-ray and ultrasound of the knees and ankles were without abnormalities. Classic EDS (I and II) was retained according to the 2017 international classification. The patient responded to tier I analgesics. Case 2 Mrs B.L, 24 years old, the third of five siblings, with a history of bronchial asthma, presented with bilateral and symmetrical polyarthralgia affecting the large and small joints with mixed type spinal pain associated with spontaneous myalgia in a context of profound asthenia evolving for 14 years. On osteoarticular examination, generalized joint hypermobility was noted (Beighton score 9/9); on the cutaneous level, transparency and hyperextensibility of the skin with multiple ecchymoses due to tissue fragility associated with delayed healing with cutaneous hyperesthesia, all associated with exertional dyspnea, chronic abdominal pain and gastroesophageal reflux since the onset of his illness. Biologically, no inflammatory syndrome. The autoimmune workup (RF, ACPA, FAN) was negative and other investigations were without abnormalities. X-rays of the chest, hands, wrists and knees were unremarkable. The patient was classified as having hypermobile EDS (type III) according to the international classification of the disease. The patient responded only partially to analgesics (levels I, II and III) and to tricyclic antidepressants. Conclusion The diagnosis of EDS must be made early in order to ensure optimal symptomatic management. The management must be multidisciplinary, including an evaluation, a psychological follow-up, a treatment of the pain and physiotherapy.