Hypermobility type of Ehlers–Danlos syndrome: influence of pregnancies

To the Editor: Recently, a simplified nosology of Ehlers–Danlos syndromes (EDS) was proposed (1). The hypermobility type (HT), previously called type III, constitutes about 10–30% of all the EDSs (2). To date, only a few reports of pregnancies with the HTEDS have been published (2–9). We report here the evolution of two consecutive pregnancies in a patient. A 21-year-old woman was diagnosed with an HT-EDS by the age of 13 years. She displayed significant joint hyperlaxity of her shoulders, hips, knees, and ankles, without any manifestation of cutis hyperelastica, nor any hemorrhagic syndrome. When she was born, her medical check-up revealed a congenital luxation of her hip joints and an ogival shaped palate. A family investigation confirmed the autosomal-dominant inheritance. Her grandmother showed a hyperlaxity, retaining the ability to do the splits at the age of 65 years. Her mother presented a hyperlaxity of the major joints, the moderate cutaneous signs of HT-EDS, and had two uneventful pregnancies, including for affected twin girls. At the beginning of the first pregnancy, the patient started suffering spontaneous joint dislocations of the shoulders and additional easy luxations of the hips, knees, and ankles. From the 29th week onwards, the patient suffered from positional left hemibody paraesthesia at bedtime. Orthostatism became an increasingly painful posture and unbearable for more than 5 min. She suffered from a bilateral sciatic neuralgia. By the 38th week, an uneventful prophylactic lower segment cesarean section was performed because of hip joint luxations appearing upon any slight effort of abduction. Under general anesthesia, she gave birth to a 3420-g boy; Apgar score 10. There were no complications in the postoperative period. The clinical symptoms returned progressively to the anterior status as before the pregnancy. Twenty months later, she became pregnant again. She could work on her feet all day until 28 weeks, after which she began to fall down because of an increasing instability of her ankles. Orthostatism became increasingly difficult and painful so that she could no longer wash the dishes without taking breaks. She spent all day long between sofa and bed. During the night, she could not stay more than 1 hour in the same position because of sciatic and brachial neuralgia. An uneventful cesarean section was performed at 38 weeks under epidural anesthesia, giving birth to a healthy 3740-g boy; Apgar score 10. The thickness of the transversal lower segment scar was normal. The wound healing was unremarkable. The mother returned progressively to the anterior articular status, with usual fatigability and musculoskeletal pain. She returned to her previous job. To our knowledge, such an evolution showing no worsening of the articular symptoms after the pregnancies has not been emphasized in the literature. The articular decompensation is known as the main risk during the progress of pregnancies. An evident aggravation of the articular symptoms by the 27th week of gestation has previously been reported (3). Difficulty in controlling back pain can even lead to the decision of undertaking a preterm delivery (3). However, the aggravation of the articular symptoms is unforeseeable, as 2 patients without any significant problem during pregnancies have been reported (2, 5). During delivery, alarming tissue damages, such as laceration of the perineum, the uterus, the bladder, and the ureters, have been observed in other types of EDSs (1). However, such severe and significant complications have never been reported in HT-EDS. Two cases of normal vaginal deliveries were reported, without noticing any consequent morbidity related to the syndrome (2, 5). It must be considered that the hemorrhagic problems reported with EDS have never been reported in any of the HT reported to date (3, 6). After both deliveries, the severe articular symptoms progressively disappeared and the patient returned to her former articular status. Therefore, in case of an aggravation of the articular symptoms during pregnancy, it must be emphasized that a complete return to the former status is possible. The molecular mechanism of HT-EDS is unknown (10). We are currently performing the