Symptoms
Progressive scoliosis, often present at birth or developing early in childhood.
Generalized joint hypermobility, leading to frequent dislocations and subluxations.
Muscle hypotonia (decreased muscle tone) at birth.
Fragile skin that bruises easily.
Ocular fragility, including risk of rupture of the globe.
Arterial rupture (less common, but a serious complication).
Osteopenia (reduced bone density).
Causes
kEDS is caused by mutations in the PLOD1 gene. This gene provides instructions for making lysyl hydroxylase 1, an enzyme essential for the proper formation of collagen, particularly collagen crosslinking. Mutations in *PLOD1* lead to a deficiency of this enzyme, resulting in weakened connective tissues. The inheritance pattern is autosomal recessive, meaning both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
There is no cure for kEDS, and treatment focuses on managing symptoms and preventing complications.
Physical therapy: To strengthen muscles, improve joint stability, and manage scoliosis.
Bracing: For scoliosis management in children and adolescents.
Pain management: Medications to alleviate pain associated with joint problems.
Vitamin C: Some studies suggest high doses of Vitamin C may help strengthen collagen. Consultation with a physician is necessary.
Surgery: Spinal fusion may be required to correct severe scoliosis. Surgery may be needed for joint stabilization or other complications.
Monitoring: Regular monitoring of the cardiovascular system to screen for potential problems.
Is Communicable
No, Kyphoscoliotic Ehlers-Danlos Syndrome is not communicable. It is a genetic disorder.
Precautions
Genetic Counseling: For families with a history of kEDS.
Avoid High-Impact Activities: To minimize the risk of joint dislocations and injuries.
Protective Eyewear: Due to ocular fragility.
Careful Surgical Planning: Surgeons should be aware of the increased risk of complications during surgery.
Cardiovascular Monitoring: Regular check-ups to monitor for vascular issues.
Skin Care: Gentle skin care practices to prevent bruising and tearing.
How long does an outbreak last?
kEDS is not an infectious disease and therefore does not have outbreaks. It is a chronic condition that lasts a lifetime.
How is it diagnosed?
Clinical Evaluation: Based on the presence of characteristic symptoms like scoliosis, joint hypermobility, and skin fragility.
Genetic Testing: The gold standard for diagnosis is genetic testing to identify mutations in the PLOD1 gene.
Skin Biopsy: Formerly used to assess lysyl hydroxylase activity, but now genetic testing is preferred.
Radiological Studies: X-rays to assess scoliosis and bone density.
Timeline of Symptoms
At Birth/Early Infancy: Muscle hypotonia, congenital scoliosis (in some cases).
Early Childhood: Progressive scoliosis, joint hypermobility becomes apparent.
Childhood/Adolescence: Frequent joint dislocations, easy bruising, development of other complications like osteopenia.
Adulthood: Chronic pain, ongoing management of scoliosis and joint issues, potential for vascular complications.
Important Considerations
Cardiovascular Risk: Although less common than in vascular EDS, arterial rupture is a potentially life-threatening complication and regular cardiovascular monitoring is crucial.
Pregnancy: Women with kEDS require careful monitoring during pregnancy due to potential complications.
Multidisciplinary Care: Management requires a team of specialists, including geneticists, orthopedists, physical therapists, pain management specialists, and cardiologists.
Early Diagnosis: Early diagnosis and management are essential to minimize complications and improve quality of life.