Clinical signs become apparent during surgery or traumatic events. Clinical signs include excessive bleeding, a failure to heal after a given traumatic event or surgery, fever, lethargy, tachycardia (rapid heartbeat), and excessive swelling. Dogs with this disease live full lives with the infusion of FFP after a bleeding event and special care is taken to be ready with blood for transfusion during a surgery in the event of a hemorrhage.
Factor XI, also called plasma thromboplastin antecedent (indicated by the green arrow), is an essential element in the coagulation cascade, which is the process by which the body stops bleeding through the formation of clots. Without the ability to form clots, an affected dog may bleed out following tissue trauma, resulting in a premature death.
Potential for full life with treatment
Dependent on the frequency and severity of the bleeding events.
F11 and 90 bp PolyA insertion, 10 bp duplication (GCACAAAGCT)
Explanation of Results
|2-2 (Homozygous Disease Variant)
||Homozygous Affecteds (2-2) are expected to develop signs consistent with Factor XI Deficiency and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
||Heterozygous Carriers (1-2) are not expected to develop signs of Factor XI Deficiency but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
|1-1 (Homozygous Normal)
||Healthy (Normal, Clear)
||Homozygous Normals (1-1) are not expected to develop signs of Factor XI Deficiency and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.
Tcherneva E, Giger U. Molecular Base Of Coagulation Factor XI Deficiency In Kerry Blue Terrier. Bulg. J. Vet. Med. 2007 10(4):247-255.
Knowler C, Giger U, Dodds WJ, Brooks M. Factor XI deficiency in Kerry Blue Terriers. J Am Vet Med Assoc. 1994 Dec 1;205(11):1557-61. PMID: 7730123.