Ehlers-Danlos syndrome (EDS) is a group of hereditary diseases affecting connective tissues-especially skin, joints and blood vessels. The cause is genetic mutations affecting the production or structure of collagen. Typical features are Excessive joint mobility, elastic leather and susceptibility to bruising or injury to soft tissueshe writes
According to British expert Jeannie di Bon, hypermobility is not an automatic sign of the disease. But if there are pain or severe problems, this may be an EDS. A simple test is used to detect hypermobility – Beighton’s score. Includes five movement tests you can do in 30 seconds, and Score over 5 out of 9 in adults (or 6 in children) indicates increased joint mobility. However, the score itself is not enough for diagnosis.
1. If the finger can be bent backwards over 90 degrees – one point for each hand.
2. If the thumb can bend backwards by touching or exceeding the palm or wrist – one point for each hand.
3. The ability to stretch the elbow to more than 10 degrees – one point for each elbow.
4. Ability to stretch the knee by more than 10 degrees – One point for each knee.
5. Ability to lean forward from a waist with completely stretched knees and touch the palms of the floor – one point when the palms touch the floor.
Official figures talk about 135,000 to 300,000 cases in the UK, but the actual incidence is probably higher due to frequent non-diagnosis. Symptoms may occur at birth, but often occur in puberty or adulthood. People with EDS more often suffer from respiratory problems – from shortness of breath to the risk of lung collapse (pneumothorax).
According to a study of 2022, up to 85 % of patients have symptoms of respiratory problems. Mental health also plays an important role – according to research, almost half of patients suffer from depressive states and more than half feel anxious. There is no treatment for EDS yet, but appropriate lifestyle care and lifestyle can significantly improve the quality of life of patients.
