Many of the symptoms of EDS are chronic, meaning they get worse over time. Kyphoscoliosis is a form of a form of Ehlers-Danlos Syndrome characterized by a severe and progressive curvature of the spine. It worsens over time and limits lung expansion, making breathing difficult.
Ehlers-Danlos syndrome (EDS) is most often diagnosed in what age group?
Clinical characteristics of the disease (e.g., joint mobility, skin extendibility, scarring tendency) are readily identifiable starting in early childhood. The other clinical signs take a little longer to show up. Young adults are commonly diagnosed with Ehlers-Danlos syndrome.
EDS Epidemiology
- The Influence of Age
Clinical characteristics of the disease (e.g., joint mobility, skin extendibility, scarring tendency) are readily identifiable starting in early childhood. The other clinical signs take a little longer to show up. Young adults are commonly diagnosed with Ehlers-Danlos syndrome.
- EDS frequency
Ehlers-Danlos syndrome (EDS) is thought to affect one out of every 400,000 individuals, but mild or incomplete forms tend to be underdiagnosed and more common than other forms. A case of vascular Ehlers-Danlos syndrome is estimated to occur once every 50,000 to 200,000 people.
- The Influence of Race
While no racial predominance appears to exist, some claim that whites are more influenced than other races.
- Sex’s Influence
The prevalences of sex-related issues are nearly identical.
Kyphoscoliosis EDS (kyphosis and scoliosis) is a form of Ehlers-Danlos Syndrome marked by extreme, progressive spinal curvature. It gets worse over time and can make breathing difficult by limiting lung expansion.
What is the origin of kEDS?
Mutations in the PLOD1 gene and rarer cases, the FKBP14 gene, cause kEDS. The PLOD1 gene directs the development of an enzyme known as lysyl hydroxylase 1. This enzyme alters the amino acids — the building blocks of proteins — in collagen, which is needed to form collagen cross-links. Collagen is the most abundant protein in the body’s connective tissue, which gives tissues and organs strength and protection. The connective tissue becomes fragile as a result of improper cross-linking between collagen proteins, resulting in kEDS symptoms.
The FKBP14 gene codes for a protein that aids in the proper folding of other proteins. A protein’s ability to act depends on its ability to fold correctly. The mechanism by which mutations in the FKBP14 gene trigger kEDS is unknown.
How is kEDS passed down?
The PLOD1 gene is inherited in two copies, one from the mother and the other from the parent. Only when both alleles of the gene are mutated does the disorder appear. If both parents have one mutated copy of the PLOD1 gene, the child has a 25% risk of inheriting both mutated copies — one from each parent — and developing kEDS. There is a 50% risk of inheriting one mutated PLOD1 gene copy, in which case no EDS symptoms will appear. Carriers are people who have one mutated gene copy and may theoretically pass the disease on to their offspring. Autosomal recessive inheritance is the term for this pattern of inheritance.
What are some of the signs and symptoms of kEDS?
The following are some of the most classic kEDS symptoms:
- Hypermobility of the joints
- Porous and hyperextensible skin that bruises easily
- Skin scarring that isn’t normal
- Progressive kyphoscoliosis occurs during the first year of life or is present at birth.
- Unnatural gait
- Overdue motor production
- At birth, hypotonia (low muscle tone)
- Impaired vision
- Arteries that are susceptible to rupture
How do you know if you have kEDS?
The diagnostic process usually entails reviewing the patient’s medical history, physical examinations, and a thorough examination of the symptoms.
Defects in enzymes involved in collagen cross-linking are detected by analyzing urine and skin samples. To validate the diagnosis, a genetic test for mutations in the PLOD1 gene is normally performed.
What is the treatment for progressive kEDS?
There is no treatment for kEDS, as there is for other forms of EDS. Treatments are focused on symptom control and avoiding severe complications.
Joint stability can be improved with physiotherapy. It may also help with motor growth and reduce hypotonia. Splints and braces can provide joint protection. Surgery may be needed in cases of serious kyphoscoliosis.
