{"id":10505,"date":"2025-09-16T14:37:10","date_gmt":"2025-09-16T11:37:10","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=10505"},"modified":"2026-04-20T18:53:36","modified_gmt":"2026-04-20T15:53:36","slug":"ehlers-danlos-syndrome-causes-manifestations-diagnosis-and-support-of-patients","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/ehlers-danlos-syndrome-causes-manifestations-diagnosis-and-support-of-patients\/","title":{"rendered":"Ehlers-Danlos Syndrome: Causes, Symptoms, Diagnosis, and Patient Support"},"content":{"rendered":"

Ehlers-Danlos Syndrome (EDS) is a group of rare inherited diseases that affect connective tissue. It provides strength and elasticity to the skin, tendons, ligaments, blood vessels, and internal organs. When the structure of collagen, the main protein of connective tissue, is disrupted, the body loses its natural resistance, which leads to a variety of clinical manifestations.<\/p>\n

The syndrome is estimated to affect approximately one in 5,000\u201310,000 people, but the actual prevalence may be much higher. This is because many cases go unrecognized due to the wide variability of symptoms and lack of specialized diagnostics.<\/p>\n

Causes and heredity<\/h2>\n

EDS is genetically determined. It is most often transmitted in an autosomal dominant manner, when a mutation in just one gene is sufficient to develop the disease. In rare cases, recessive transmission occurs, when the mutation must be present from both parents.<\/p>\n

The main ones are changes in the genes that encode collagen proteins (COL3A1, COL5A1, and others). This leads to disruption of the structure and function of connective tissue, making it excessively stretchy and fragile.<\/p>\n

Main types of syndrome<\/h2>\n

Today, 13 subtypes of Ehlers-Danlos syndrome are identified. The most common of them are:<\/p>\n

\n
\n\n\n\n\n\n\n\n\n\n
Type<\/th>\nMain manifestations<\/th>\nPossible risks<\/th>\n<\/tr>\n<\/thead>\n
Hypermobile (hEDS)<\/strong><\/td>\nExcessive joint mobility, chronic pain, increased fatigue<\/td>\nFrequent injuries, reduced quality of life<\/td>\n<\/tr>\n
Classic (cEDS)<\/strong><\/td>\nVery elastic skin, thin atrophic scars, dislocations<\/td>\nPoor wound healing, cosmetic problems<\/td>\n<\/tr>\n
Vascular (vEDS)<\/strong><\/td>\nThin, transparent skin, prone to bruising, fragile blood vessels<\/td>\nRuptures of arteries and internal organs, life-threatening<\/td>\n<\/tr>\n
Kyphoscoliosis<\/strong><\/td>\nSpinal curvature, muscle weakness, deformities<\/td>\nProgressive scoliosis, limited mobility<\/td>\n<\/tr>\n
Dermatosparaxy<\/strong><\/td>\nExtreme fragility of the skin, hernial protrusions<\/td>\nChronic wounds, complexity of surgical interventions<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div>\n

Symptoms<\/h2>\n

The clinical picture depends on the subtype, but common features can be identified. Most often, patients have:<\/p>\n