Ehlers-Danlos Syndrome

when I was about 5 I broke my arm pretty badly and didn't know what

Ehlers-Danlos syndrome (EDS) is a clinical diagnosis and is a connective tissue disorder characterized by a variety of degrees of joint hypermobility, skin extensibility and tissue fragility. If you have the vascular variety of EDS there is a likely 50% chance it could be passed down from parent to child. When trying to clinically define the pain in EDS, the findings are poor. There are nine different types of EDS and each type is distinguished from others but that depends on the system involved. “Most types of EDS are inherited as autosomal dominant trait, although x-linked and autosomal recessive types have been described” (Beighton). EDS type III is the most common disorder with presenting with generalized joint hypermobility

Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings. The skin is smooth, velvety to the touch, and hyperelastic; i.e., it extends easily and snaps back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is delayed, and stretching of scars after apparently successful primary

Ehlers Danlos Syndrome has mutations in the gene collagen, type V, alpha 1 (COL5A1). Which is connected to the long arm (q) of chromosome 9 (9q34.2-q34.3) also the gene collagen type V, alpha 2 (COL5A2), on the long arm of chromosome 2 (2q31). People who have EDS have a 50% chance they have one of these mutations in their genes. Ehlers Danlos also has an autosomal dominant inheritance.

Not many people know of the problem that affects every cell and causes pain called EDS. EDS stands for Ehlers Danlos syndrome. It is a genetic disorder which means that it runs in a family. It can cause pain and even organ rupture. Lastly, there is no cure only medications to take that make it less severe.

Ehlers-Danlos Syndrome (EDS) is an inheritable disease that affects the connective tissues within the body. Since most structures in the body are composed of some form of connective tissue, such as the skin, bone, blood vessels, organs, and supportive joint structures, there is not really a part of the body that is left unaffected. Ehlers Danlos can be described as, “widespread manifestations in skin, ligaments, joints, blood vessels and internal organs” (De Paepe, Malfait 2012). Ehlers Danlos Syndrome, or EDS, causes hypermobility in the joints and connective tissues of the body, especially those of the musculoskeletal system. EDS can also cause “velvety” skin that is highly stretchable and elastic. Since the walls of the vascular structures

Ehlers-Danlos Syndrome (EDS) is a collection of heritable connective tissue disorders. Either directly or indirectly, Ehlers-Danlos Syndrome has been known or thought to alter the biology of collagen in the body. There are physical characteristics that are common to all types of Ehlers-Danlos Syndrome, including hypermobile joints (joints that move in greater amounts than expected) and skin involvement, such as any of the following: soft, stretchy, saggy, too thin, easy bruising, easy wounding, poor wound healing and/or atrophic scarring. Each type has very specific and unique features. It is very unlikely to have more than one type of Ehlers-Danlos syndrome, but as they have features and ‘biology’ in common, each type may appear to have

Ehlers-Danlos Syndrome (Hypermobility Type) is a genetic connective tissue disorder characterized by joint laxity, velvety skin, joint pain, and other widespread complications of the body. It can be inherited from a parent with the same faulty gene, or it can be a newly developed mutation. Connective tissue is infused with collagen protein that provides strength and elasticity. It is spread abundantly throughout the human body in skin, muscles, tendons, ligaments, blood vessels, and surrounding the internal organs. In the individual with EDS-HT, abnormal collagen formation in the connective tissue causes the tissue to stretch beyond what is normal, resulting in damage and other multi-systemic problems.

The main medical issues, in this case, are increased bone pain, visual changes, headaches, confusion, fatigue, and paresthesia. However, there were insufficient objective clinical findings that would further support a functionally impairing condition during the referenced time period. As it relates to Ehlers-Danlos Syndrome, there were no documented significant exam abnormalities such as an abnormal ability to elevate the right toe, painless dorsiflexion of the fingers, and knee deformity. As it relates to celiac disease, there was no mention of peripheral edema, weight loss, and muscle wasting. As it relates to severe gadolinium toxicity,

EDS in Parctice (n.d.) reports that diagnosis of EDS is hampered by the fact that symptoms of EDS such as joint hypermobility, can mimic normal pre-adolescent growth. Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy (Baeza-Velascoa, Grahameb, & Bravoc,

The manifestations in EDS continues to be difficult in characterizing and quantifying the prevalence of the many clinical symptoms seen in this syndrome. Study subjects are often diagnosed later in the disease process which causes disproportionate groups with few subjects in the early symptomatic stages. The groups that have been studied demonstrate the following clinical issues. Skin hyper-extensibility is the primary Dermatologic feature seen in EDS. To test the skin doctors find a neutral area with no scarring. The skin is stretched until resistance is noticed and the degree of extension is measured. Skin is considered hyper-extensible if measurements are 1.5cm and beyond (see figure 1) [4,7].

Ehlers-Danlos Syndrome consists of a range of rare diseases that all involve errors in the way the body synthesizes collagen or the agents that interact with it (Levy, 2004). Over the years, researchers have identified ten different syndromes that are classified under Ehlers-Danlos Syndrome, but there are many other types that are both rare and poorly defined in medical literature (Levy, 2004). The six types defined by the Villefranche nomenclature are as follows: Classical Type (further divided in gravis and mitis types, the former being a milder version of the former), Hypermobility Type, Vascular Type, Kyphoscoliosis Type, Arthrochalasia Type, and Dermatosparaxis Type (Ehlers-Danlos syndrome, 2015) . For the former three types, current

While a diagnosis of degenerative disc disease may seem alarming, patients should keep in mind that it is neither a disease nor strictly degenerative. The phrase degenerative disc disease actually describes the symptoms of pain and possible associated radiating weakness or numbness stemming from a degenerated disc in the spine. The word “degenerative” – though

“Ehlers-Danlos is a genetic condition where basically my body sucks at making collagen. The collagen my body produces is faulty. It’s um…it’s kinda like if you replaced a bottle of glue with honey, it will be sticky, but it won’t hold well, so

Honestly , it was my first time going to the Accident and Emergency department i was scared and worried about what will happen to my wrist and how will my parents react .While my teacher was doing all the registration i sat there in state of shock . It was really a blessing having my best friend by my side comforting me and constantly telling me everything will be alright . I was then called to do some X-RAYS before consulting the doctor . My parents finally came and just right it was my turn to consult the doctor , my mother then went in together with me . The doctor was then examining my X-RAYS that i took before consulting him . My heart was beating very very fast as I am a right hander and i need my right hand to do many things . Finally the doctor spoke , he said that there was no obvious or major fractures shown in my X-RAYS but i have to put an temporary cast on my hand. He then referred me to a specialist at KK Children Bone Specialist to ensure there was no hairline fracture or any small minor fractures .