Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)

About Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)

Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS) is a rare, inherited connective tissue disorder. It is part of a group of conditions known as Ehlers-Danlos Syndromes (EDS), which affect connective tissues that support skin, bones, blood vessels, and many other organs and tissues. kEDS stands out for its distinct symptoms, which often present early in life, typically from birth or childhood.

Symptoms of kEDS

The key features of kEDS include:

• Muscle hypotonia (low muscle tone) present at birth.
• Kyphoscoliosis, a combination of kyphosis (a forward curve of the spine) and scoliosis (a sideways curve), which is either present from birth or develops early and progresses over time.
• Generalized joint hypermobility, often leading to frequent joint dislocations, especially in the shoulders, hips, and knees.

Other notable symptoms include:

• Skin that stretches easily (hyperextensibility).
• Easy bruising and fragile skin.
• Possible arterial rupture or aneurysms in medium-sized arteries.
• Osteopenia or osteoporosis (weakened bones).
• Blue sclerae (a bluish tint to the whites of the eyes).
• Various musculoskeletal anomalies like hernias, pectus deformity (abnormal chest shape), and clubfoot (talipes equinovarus).

Genetic Cause

kEDS is caused by mutations in the PLOD1 or FKBP14 genes, which affect collagen, a key protein in connective tissue. These genetic variations disrupt the normal production and structure of collagen, leading to the connective tissue issues that characterize kEDS.

• PLOD1 mutations are associated with fragile skin, poor wound healing, and scleral (eye) fragility.
• FKBP14 mutations may lead to additional features like hearing impairment, muscle atrophy, and bladder diverticula.

Diagnosis

Diagnosing kEDS involves a careful evaluation of clinical symptoms based on specific diagnostic criteria. These include:

• Major criteria: Muscle hypotonia, early-onset kyphoscoliosis, and generalized joint hypermobility.
• Minor criteria: Skin hyperextensibility, easy bruising, arterial rupture, and more.Genetic testing confirms the diagnosis by identifying mutations in either the PLOD1 or FKBP14 genes.

Management

Currently, there is no cure for kEDS, so treatment focuses on managing symptoms and preventing complications. This typically involves a multidisciplinary team that includes geneticists, orthopedists, and other specialists. Key management strategies include physical therapy to strengthen muscles, braces to support joints, and monitoring for potential complications such as arterial rupture.

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References

1. Ehlers Danlos Support UK. "Kyphoscoliotic EDS (kEDS)." The Ehlers-Danlos Support UK, https://www.ehlers-danlos.org/information/kyphoscoliotic-eds-keds/.
2. Brady, Angela F., et al. "The Ehlers-Danlos Syndromes, Rare Types." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175C, no. 1, 2017, pp. 70-115. Wiley Online Library, doi:10.1002/ajmg.c.31550.
3. Malfait, Fransiska, et al. "The 2017 International Classification of the Ehlers-Danlos Syndromes." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175C, no. 1, 2017, pp. 8-26. Wiley Online Library, doi:10.1002/ajmg.c.31552.
4. Ehlers-Danlos Society. "Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)." The Ehlers-Danlos Society, https://www.ehlers-danlos.com/keds/.

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