Project about Ehlers Danlos Syndrome
What is Ehlers Danlos syndrome?
Ehlers Danlos Syndrome (SED) is a heterogeneous group of inherited genetic diseases of the connective tissue caused by defects in the enzymes responsible for the synthesis of collagen.
There are physical characteristics that are common to all types of Ehlers-Danlos syndrome, including joint hypermobility (joints that move in larger quantities than expected) and involvement of the skin, such as any of the following: soft, elastic, Soft, too thin, easy bruising, easy wound, poor wound healing and / or atrophic scars.
Photograph taken from the biology lab of José María Campos high school (Mercedes, Uruguay)
Connective tissue
(Pink dots) Fibroblast nuclei, typical cell of loose connective tissue
(Pink dots) Fibroblast nuclei, typical cell of loose connective tissue
(Thin lines) are the elastic fibers
(Thick pink lines in the background) are the collagen fibers
Network of support and connection for all the other tissues of the organism
Collagen
Collagen is a protein that forms part of the connective tissue, being this the most abundant component of the organism. It supports the functions of support, filling, storage, transport, defense, repair and support to many parts of the body. As the skin, joints, blood vessels and internal organs, that is, acts as the "gum" constituting the material support of the body.
Ehlers Danlos Syndrome is a rheumatic disease that as such causes diseases that affect the different parts of the locomotor system without needing to receive any blow or trauma. The components of the musculoskeletal system that can be injured in this disease include: bones, joints, ligaments, synovial sacs and muscles with their tendons. Organs or systems such as the lung, heart, eyes, skin, bowel and connective tissue, among others, may also be affected.
In people affected by this syndrome, connective tissue weakens, so they often have joint hypermobility, hyperextensibility of the skin (skin that is stretched and damaged easily) and fragility of the tissues.
The hypermobility of the joints seems to be the result of the laxity of the ligaments and tendons of the joint, associated with muscular hypotonia that facilitates contortions of the fingers and limbs. Patients may present with dislocations, joint pain, spinal deformity, chest wall, osteoarthritis and osteoporosis at an early age.
Gastrointestinal manifestations such as inguinal and umbilical hernias.
Neurological alterations: epilepsy, migraine, febrile seizure, neonatal seizure and psychomotor retardation.
Other symptoms associated with SED are: dysautonomia, fatigue, difficult healing and poor healing of wounds, flat feet, valgus, eqipios, equinovaros, very soft and velvety skin with ease for the appearance of bruises.
Neuromuscular, ocular and oral alterations can also occur, as well as hearing loss (hearing loss).
In the most severe cases, pneumothorax, mitral valve prolapse, and spontaneous ruptures of arteries and internal organs may occur.
EDS is a disease that often goes unnoticed and affected patients are treated for isolated symptoms, all of them related to the syndrome, without the health professional taking into account the underlying pathology, that is why specialists believe that in the Is an underdiagnosed entity