Disease overview

Ehlers-Danlos syndrome is a rare genetic disease found primarily in Himalayan cats. The name denotes a group of connective tissue disorders where the skin has a very characteristic appearance (fragile, stretchy and loose). This is due to a defect in collagen production, resulting in collagen fibers having an abnormal structure. Defective collagen production can also affect other tissues, such as the heart, eyes and blood vessels.

Gene name

COL5A1

Inheritance

Both autosomal recessive and autosomal dominant inheritance patterns for this disease have been observed in cats. Data on the COL5A1 mutation suggests it is inherited in an autosomal dominant pattern.

Signs and symptoms

Clinical signs of this disease include abnormally loose or fragile skin. In addition, affected cats will likely display loose joints, abnormalities in the eyes, and, possibly, the heart and vascular system.

How is it diagnosed

Diagnosis of this disease is informed by detailed history and clinical signs. It can be confirmed using a skin test and biopsy of skin samples.

Breeds at higher risk

Citations

https://pubmed.ncbi.nlm.nih.gov/30246406/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.