About Classical-like Ehlers-Danlos syndrome type 2
What is Classical-like Ehlers-Danlos syndrome type 2?
Classical-like Ehlers-Danlos syndrome type 2 is a rare genetic disorder that affects the connective tissues in the body. It is characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. People with this condition may also experience chronic pain, easy bruising, and poor wound healing.
What are the symptoms of Classical-like Ehlers-Danlos syndrome type 2?
The symptoms of Classical-like Ehlers-Danlos syndrome type 2 (EDS type 2) can vary from person to person, but may include:
- Joint hypermobility
- Joint Pain and instability
- Easy bruising
- Fragile skin that tears or bruises easily
- Stretchy skin
- Poor wound healing
- Abnormal scarring
- Scoliosis
- Dental problems
- Abnormal facial features
- Mitral valve prolapse
- Gastrointestinal problems
- Autonomic nervous system dysfunction
- Chronic fatigue
What are the causes of Classical-like Ehlers-Danlos syndrome type 2?
Classical-like Ehlers-Danlos syndrome type 2 is caused by mutations in the COL5A1 gene, which is responsible for producing type V collagen. Mutations in this gene can lead to a decrease in the amount of type V collagen produced, resulting in the symptoms of Classical-like Ehlers-Danlos syndrome type 2.
What are the treatments for Classical-like Ehlers-Danlos syndrome type 2?
The treatments for Classical-like Ehlers-Danlos syndrome type 2 are focused on managing the symptoms and complications associated with the condition. These treatments may include physical therapy, occupational therapy, bracing, and orthopedic surgery. Pain medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) and opioids, may also be prescribed to help manage pain. In some cases, injections of hyaluronic acid may be used to reduce joint pain and improve joint mobility. Additionally, lifestyle modifications, such as avoiding activities that put strain on the joints, may be recommended.
What are the risk factors for Classical-like Ehlers-Danlos syndrome type 2?
1. Genetic mutation in the TNXB gene
2. Family history of Ehlers-Danlos syndrome
3. Female gender
4. Joint hypermobility
5. Skin hyperextensibility
6. Fragile skin
7. Easy bruising
8. Poor wound healing
9. Early onset of varicose veins
10. Scoliosis
11. Mitral valve prolapse
12. Chronic pain
13. Chronic fatigue
14. Gastrointestinal issues
15. Dysautonomia
16. Dysphagia
17. Dyspnea
18. Ocular issues
19. Cardiac issues
20. Arrhythmias
Is there a cure/medications for Classical-like Ehlers-Danlos syndrome type 2?
At this time, there is no cure for Classical-like Ehlers-Danlos syndrome type 2. However, there are medications that can help manage the symptoms of the condition. These include pain medications, muscle relaxants, and medications to help with joint stability. Physical therapy and lifestyle modifications can also help manage the symptoms of the condition.