Factor XI Deficiency

Coagulation factor XI deficiency is a bleeding disorder caused by genetic variants that alter the function of the F11 gene. This protein is essential in the blood coagulation cascade, participating in clot formation in response to vascular injury.

Symptoms

Factor XI deficiency generates an abnormal coagulation process that can lead to anemia, gingival bleeding, hematoma formation without obvious trauma and excessive bleeding during surgery. Clinical signs may appear from months of age up to 8 years.

Disease Management

Treatment of factor XI deficiency in cats with clinical signs of hemorrhage includes transfusion of fresh whole blood or fresh frozen plasma. In surgical situations, preoperative transfusion and careful surgical technique with close postoperative monitoring is recommended.

Genetic basis

This disease follows an autosomal recessive mode of inheritance. Autosomal recessive inheritance means that the cat, regardless of sex, must receive two copies of the mutation or pathogenic variant to be at risk of developing the disease. Both parents of an affected cat must carry at least one copy of the mutation. Animals with only one copy of the mutation are not at increased risk of developing the disease, but may pass the mutation on to future generations. Breeding between cats carrying genetic variants that may cause disease, even if they do not show symptoms, is not recommended.

Technical report

Coagulation factor XI deficiency is a bleeding disorder. The F11 gene encodes for factor XI, an essential protein in the blood coagulation cascade. Factor XI is involved in the activation of the intrinsic coagulation cascade, which is essential for clot formation in response to vascular injury. Genetic variants that alter the function of factor XI can adversely affect the coagulation process. This is the case with the c.1546G>A variant described in the Maine Coon breed that has been associated with a mild to moderate bleeding tendency. The variant has not been described in other feline breeds and genetic study of other cat breeds has been limited.

Most affected breeds

Maine Coon

Bibliography

Kuder H, Dickeson SK, Brooks MB, et al. A Common Missense Variant Causing Factor XI Deficiency and Increased Bleeding Tendency in Maine Coon Cats. Genes (Basel). 2022 Apr 28