More about Classical like Ehlers-Danlos Syndrome
Blog Post #3
Classical like Ehlers-Danlos Syndrome is a genetic connective tissue caused by genetic variants of the TNXB gene. This condition can cause severe skin hyperextensibility, velvety skin texture, generalized joint hypermobility and easy bruising. This genetic variant affects the connective tissue, which provides support, structure, and protection throughout the body. Due to this connective tissue being found throughout the body, clEDS is another multi-system disorder. As of now, classical-like EDS is considered an ultra rare disorder, affecting ONLY 1 in one million. Common symptoms of clEDS include pain and fatigue, prolapse of the vagina, uterus or rectum, hematomas, polyneuropathy, and recurrent joint subluxations/dislocations. Predisposition to tissue fragility of the gastrointestinal tract is also common. There are also several other distinguishing clinical findings including abnormalities of the hands and feet, edema in the legs in the absence of cardiac failure, and subjective muscle weakness of proximal and distal muscles of the extremities. Other possible complications due to clEDS are vascular fragility and cardiac/valvular abnormalities. Due to these possible complications, special attention must be taken when going under general anesthesia. Like hEDS, because the symptoms of clEDS are primarily experienced and felt, but often invisible, patients also experience the challenge of having symptoms that are severe, but go dismissed or misdiagnosed/undiagnosed for decades. The clEDS is known to have an autosomal recessive inheritance pattern. If diagnosed with classical-like Ehlers-Danlos Syndrome, it is important to make Obstetricians and Midwives aware of the diagnosis if one were to become pregnant. Specialist delivery is strongly advised. Next blog post covering the topic of preparing for your 1st Appt with an EDS Knowledgable Physician.