Ehlers-Danlos Syndrome (EDS) 4.5/5 (14)

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Ehlers-Danlos SkinHyperext-hand1

Overstretched skin is a symptom of Ehlers-Danlos syndrome. Photo: "SkinHyperext hand1" from Dagger9977 Wikimedia Commons - http://commons.wikimedia.org https://openi.nlm.nih.gov/faq#copyrighthttps://creativecommons.org/licenses / by-nc-sa / 3.0 /

Ehlers-Danlos Syndrome (EDS). ICD-10 Q79.6

Definition

Ehlers-Danlos syndrome (EDS / dermatosis practice) is a group of non-inflammatory (non-inflammatory), hereditary diseases with extensibility in the connective tissue. EDS thus differs from them Inflammatory connective tissue diseases. The disease has varying symptoms and severity. Often hypermobility (stretchable) joints and stretchable skin. Some with EDS have a vascular form (which attacks blood vessels) as with Marfan's syndrome og hereditary thoracic aortic aneurysm (HTAD) which includes the disease among the hereditary "Marfan-like" diseases.

Hypermobility at Ehlers-Danlos syndrome. Nemours Children's Clinic, Jacksonville, Florida. openi

Occurrence

All EDS types together probably occur among 1 of 5-10.000, which implies about 1000 cases in Norway (prevalence). EDS is thus defined as one rare disease.

Disease Cause

Genetic defects that affect the production and structure of collagen or associated proteins have been demonstrated. Examples of genetic defects are mutations in the genes ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A2, PLOD1, TNXB and COL3A.

Symptoms

Ehlers-Danlos syndrome is separated from The hypermobility syndrome, Marfan's syndrome and from Loeyes-Dietz syndrome

  • Overstrechable (Hypermobile) joints (Often ankle distorsion)
  • The skin can often be stretched more than normal, is velvety, and easily causes blood exudates (hematomas)
  • Muscle and joint pain but not inflammatory swollen joints
  • Most serious complication is that some also develop arterial aneurisms (Aneurysms) that can crack (aneurysm rupture)
  • The disease usually begins with symptoms of childhood, but sometimes EDS is diagnosed late
    • Due to blood exits and pain, some cases of EDS have been misinterpreted as child abuse

Hypermobility at Ehlers-Danlos syndrome. Nemours Children's Clinic, Jacksonville, Florida. openi.

Medical examinations

Patients living in Oslo are investigated at Oslo University Hospital HF, Department of Physical Medicine and Rehabilitation, PO Box 4956 Nydalen, Ullevål Hospital, 0424 Oslo

Treatment of Ehlers-Danlos Syndrome (EDS)

Medical Prognosis / Living Prospects

Depending on the type of EDS. Some have few ailments and most have normal life expectancy. However, large deformities in the thoracic skeleton are detrimental to the heart and lungs in the long term. Shapes with weakness in blood vessels and aneurysms are most serious.

Incorrect diagnosis (Similar conditions / Differential diagnoses)

Literature


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