Delayed postoperative hemorrhage (DEPOH) - Deerhound, Greyhound, English Springer Spaniel, Welsh Springer Spaniel

General description

A variant in the SERPINF2 gene in Scottish Deerhounds and Greyhounds is associated with an increased risk of developing delayed postoperative hemorrhage (DEPOH). In the breeds English Springer Spaniel (ESS) and Welsh Springer Spaniel (WSS), a genetic variant in the SERPINE1 gene has been identified that can lead to a postoperative bleeding tendency with hyperfibrinolysis.

Breeds

Deerhound, English Springer Spaniel, Greyhound, Welsh Springer Spaniel

Detailed description

Bleeding tendencies in dogs can have a variety of causes and often manifest as an increased tendency to bleed even from minor injuries or through spontaneous bleeding.

Delayed postoperative hemorrhage (DEPOH) - Deerhound, Greyhound

A variant in the SERPINF2 gene has been identified in Scottish Deerhounds and Greyhounds that is associated with an increased risk of developing delayed postoperative hemorrhage (DEPOH).

Clinical signs are the unexpected, excessive bleeding or bruising starting 1 to 4 days after a surgical procedure. The symptoms vary from frank bleeding from the wound, to excessive and also progressive bruising of the skin surrounding the wound and hemoabdomen.

The results of coagulation screening tests like the measurements of prothrombin time, activated partial thromboplastin time and von Willebrand factor antigen, as well as platelet counts were unremarkable.

Compared to dogs not carrying the marker variant, dogs with two variant alleles as well as dogs with one variant allele show an increased risk of developing DEPOH.

Order details
Test number8862
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexhematologic
Inheritanceautosomal dominant with incomplete penetrance
CausalityHigh-risk factor
GeneSERPINF2
MutationC-T
LiteratureOMIA:002631-9615

Delayed postoperative hemorrhage (DEPOH) - English Springer Spaniel, Welsh Springer Spaniel

In the breeds English Springer Spaniel (ESS) and Welsh Springer Spaniel (WSS), a genetic variant in the SERPINE1 gene has been identified that can lead to a postoperative bleeding tendency with hyperfibrinolysis.

Hyperfibrinolysis refers to a disorder of the blood clotting system in which formed blood clots dissolve too quickly. Normally, fibrinolysis ensures that a blood clot is gradually broken down after wound healing is complete. In hyperfibrinolysis, however, this breakdown process occurs far too early and too intensely. As a result, blood clots can no longer permanently seal the bleeding site, leading to persistent or delayed bleeding.

In affected dogs of these two breeds, the disease often becomes apparent at a young age (from around 7 months), often after surgical procedures or trauma. In addition to delayed and prolonged bleeding after surgery, affected dogs may also suffer from spontaneous bleeding into the abdominal cavity or subcutaneous tissue, as well as hematomas or bloody wound secretions. The affected dogs may appear weak and lethargic, with pale gums and a low pulse.

Standard coagulation tests (PT, PTT, buccal mucosal bleeding time) are usually within normal ranges, which makes it difficult to identify hyperfibrinolysis as the underlying cause of bleeding without genetic testing.

The SERPINE1 gene encodes the protein plasminogen activator inhibitor-1 (PAI-1), which normally regulates the breakdown of blood clots. Due to the genetic variant, no functional PAI-1 is produced in the platelets, which can result in life-threatening bleeding.

Since heterozygous dogs were still found to produce detectable PAI-1 protein and no increased bleeding tendency has been reported in these animals, the inheritance pattern is assumed to be autosomal recessive.

Order details
Test number8862
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Age of onset7 months
GeneSERPINE1
MutationDUP
LiteratureOMIA:002967-9615