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

Definition

Ehlers-Danlos syndrome (EDS / dermatospraxis) is a group of non-inflammatory (non-inflammatory), hereditary diseases with extensibility of the connective tissue. EDS thus differs from those 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) the disease is included among the hereditary "Marfan-like" diseases.

Occurrence

All EDS types together probably occur among 1 in 5-10.000, which means approx. 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

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

• Genetic testing
  • More here (genetikkportalen.no)

Treatment of Ehlers-Danlos Syndrome (EDS)

• Patientinformation / handeling
• Physiotherapist: Stabilizing muscle strength training
• Orthoses
• In case of established diagnosis (no medical examinations), the competence center at Sunnås Hospital is also relevant.
  • TRS Expert Center for Rare Diagnostics, Sunnaa Hospital HF, 1450 Nesoddtangen

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)

• Hypermobility syndrome

• Marfan's syndrome

  • Fibrillin gene analysis, sent OUS, Ullevål

• Loeys-Dietz syndrome

  • TGF-beta receptor 1 and 2 gene mutations, sample sent OUS, Ullevål

• Menkels disease

  • Defective in copper metabolism

• Pseudoxanthoma elasticum

Literature

• Sulli A, 2018
• TRS kompetansesenter at Sunnås Hospital
• Svend Rand-Hendriksen, the Norwegian medical journal
• Grans Compendium in Rheumatology

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• Bindevevssykdommer.no
• Vaskulitt.no
• revmakompendium.no