Contributions
Abstract: P10
Type: Poster presentation
Presentation during EHA Scientific Conference on Bleeding Disorders:
On Friday, September 16, 2016 from 14:00 - 15:30
Location: Cristal + Coral
Background
Gorham’s disease (GD) is a rare genetic disorder occurring in children and young adults characterized by resorption of flat bones and localized lymphangiogenetic proliferation. Surgical resection is one of different treatment modalities currently existed. Acquired coagulopathy is sometimes a complication of vascular tumors, particularly after surgery. Factor FXIII deficiency is also an inherited rare genetic disorder that causes severe hemorrhage particularly after trauma or surgery in the homozygous patients.
Aim
We report here a case of patient with Gorham’s disease with excessive bleeding after surgery, who discovered with moderate factor XIII deficiency, successfully treated with Factor XIII infusion.
Methods
A 24-years man with Gorham’s disease was admitted to orthopedic department of our hospital in February 2016, due to stiffness on right knee where a prosthesis had been located several years before. He presented with giant hemangioma extending from right paravertebral tissues, to gluteus and femur. In order to mobilize the knee the patient underwent to surgery with epidural analgesia. Bleeding from site of spinal injection started after few days and large hematoma therefore drained. New bigger paravertebral hematoma developed some days later, with severe anemia that required blood transfusion and admission to intensive care unit. Coagulation exams showed mild prolongation of PT and aPTT (1.2 and 1.25 respectively), mild reduction of fibrinogen (150 mg/dL), elevation of D-dimer (5000 ng/ml), with severe reduction of FXIII sub A (5%). A picture of mild intravascular disseminated coagulation with factor XIII deficiency was recognized. Factor XIII (Cluviat, 25 U/Kg) were infused, initially every 72 h and subsequently weekly to maintain FXIII levels above 50%. The parents were tested for factor XIII level and they resulted normal, thus a new mutation in the patient was supposed.
Results
At the beginning, FXIII levels maintained below 30% although weekly infusion of Cluviat and bleeding from surgical wound continued. Clinical condition and bleeding started improving only after two months of continuous treatment when the paravertebral hematoma slowly reduced and factor XIII level increased with longer need of infusion. Finally, surgical wound healed by third intension. Currently the patient restores mobilization, hemoglobin level is within normal range (14.5 g/dl) and coagulation parameters are stable (PT 1.05, aPTT 0.93, fibrinogen 150 mg/dl, d-dimer 3000 ng/ml). Factor XIII level is actually 45% and no further infusion has been necessary for three months. Patient is now continuing the follow up with check of coagulation parameters every month.
Conclusion
We have reported a case of patient affected with Gorham’s disease and Factor XIII deficiency, both rare disorders never described in association. We suppose that excessive bleeding after surgery probably sustained by prior factor XIII deficiency caused an acquired coagulopathy with further consumption of factor XIII and worsening of bleeding in a vicious cycle. Treatment with Cluviat was efficacy in stopping bleeding, repairing surgical wound and restoring factor level approximately around 50%.
References
1. Farugi et al, Biomed Res Int 2014; 2014:670842
2. Nikolaou et al, World J Orthop 2014; 5(5):694
3. Dorgalaleh et al, Blood Rev 2016 Jun 16
4. Lassila, Semin Thromb Hemost 2016; 42(4):440
Abstract: P10
Type: Poster presentation
Presentation during EHA Scientific Conference on Bleeding Disorders:
On Friday, September 16, 2016 from 14:00 - 15:30
Location: Cristal + Coral
Background
Gorham’s disease (GD) is a rare genetic disorder occurring in children and young adults characterized by resorption of flat bones and localized lymphangiogenetic proliferation. Surgical resection is one of different treatment modalities currently existed. Acquired coagulopathy is sometimes a complication of vascular tumors, particularly after surgery. Factor FXIII deficiency is also an inherited rare genetic disorder that causes severe hemorrhage particularly after trauma or surgery in the homozygous patients.
Aim
We report here a case of patient with Gorham’s disease with excessive bleeding after surgery, who discovered with moderate factor XIII deficiency, successfully treated with Factor XIII infusion.
Methods
A 24-years man with Gorham’s disease was admitted to orthopedic department of our hospital in February 2016, due to stiffness on right knee where a prosthesis had been located several years before. He presented with giant hemangioma extending from right paravertebral tissues, to gluteus and femur. In order to mobilize the knee the patient underwent to surgery with epidural analgesia. Bleeding from site of spinal injection started after few days and large hematoma therefore drained. New bigger paravertebral hematoma developed some days later, with severe anemia that required blood transfusion and admission to intensive care unit. Coagulation exams showed mild prolongation of PT and aPTT (1.2 and 1.25 respectively), mild reduction of fibrinogen (150 mg/dL), elevation of D-dimer (5000 ng/ml), with severe reduction of FXIII sub A (5%). A picture of mild intravascular disseminated coagulation with factor XIII deficiency was recognized. Factor XIII (Cluviat, 25 U/Kg) were infused, initially every 72 h and subsequently weekly to maintain FXIII levels above 50%. The parents were tested for factor XIII level and they resulted normal, thus a new mutation in the patient was supposed.
Results
At the beginning, FXIII levels maintained below 30% although weekly infusion of Cluviat and bleeding from surgical wound continued. Clinical condition and bleeding started improving only after two months of continuous treatment when the paravertebral hematoma slowly reduced and factor XIII level increased with longer need of infusion. Finally, surgical wound healed by third intension. Currently the patient restores mobilization, hemoglobin level is within normal range (14.5 g/dl) and coagulation parameters are stable (PT 1.05, aPTT 0.93, fibrinogen 150 mg/dl, d-dimer 3000 ng/ml). Factor XIII level is actually 45% and no further infusion has been necessary for three months. Patient is now continuing the follow up with check of coagulation parameters every month.
Conclusion
We have reported a case of patient affected with Gorham’s disease and Factor XIII deficiency, both rare disorders never described in association. We suppose that excessive bleeding after surgery probably sustained by prior factor XIII deficiency caused an acquired coagulopathy with further consumption of factor XIII and worsening of bleeding in a vicious cycle. Treatment with Cluviat was efficacy in stopping bleeding, repairing surgical wound and restoring factor level approximately around 50%.
References
1. Farugi et al, Biomed Res Int 2014; 2014:670842
2. Nikolaou et al, World J Orthop 2014; 5(5):694
3. Dorgalaleh et al, Blood Rev 2016 Jun 16
4. Lassila, Semin Thromb Hemost 2016; 42(4):440