THE BLEEDING SPECTRUM OF 21 EGYPTIAN PATIENTS SUFFERING FROM CONGENITAL AFIBRINOGENAEMIA: A 10-YEAR RETROSPECTIVE STUDY
(Abstract release date: 05/19/16)
EHA Library. Abdelwahab M. 06/09/16; 132547; E998
Prof. Magy Abdelwahab
Contributions
Contributions
Abstract
Abstract: E998
Type: Eposter Presentation
Background
Congenital afibrinogenaemia has an estimated prevalence of one in 1,000000. The afibrinogenemic patients’ phenotype is mainly characterised by bleeding but thromboses, bone pain and delayed wound healing have also been reported
Aims
To describe the phenotypic spectrum and bleeding incidence of an Egyptian afibrinogenaemic cohort
Methods
All patients with a confirmed congenital afibrinogenaemia (based on fibrinogen levels and genotype) were included. Patients were followed regularly every 1-12 months over a period of 1 to 10 years. All bleeding episodes and fibrinogen replacements were recorded.
Results
Twenty-one patients (13 males, 8 females) with a mean age of 12.9 years from 15 consanguineous families were included.They were followed for a median period of 9 years.The bleeding phenotype was characterized by umbilical bleeding (65%), oral bleeding and epistaxis (45%), central nervous system haemorrhage (25%), joint bleeds (25%), hematochezia (10%), peritoneal bleeding (10%), hematuria (5%), spinal hemorrhage (5%), muscle bleeds (5%). Most women in child bearing period reported menorrhagia (75%). In addition, 15% of patients experienced a delayed wound healing and all had post-traumatic bleeding. Half of patients (57%) had atypical bleeds in the form of spontaneous unexplained severe bone pain in forearms and lower limbs, relieved by fibrinogen replacement. Overall, the incidence of severe bleeding varied from 1 to 5 bleeds/pt/years although one patient had weekly hemorrhages. No patients had arterial or venous thrombosis.All patients were on demand therapy but one with recurrent cerebral bleeding on biweekly prophylaxis. Replacement fibrinogen included cryoprecipitate 15-20 mg/kg/d for mild to moderate bleeds and 30mg/kg/12-24 hours for severe/serious bleeds for a period ranging from 1-5 days.
Conclusion
Our cohort showed a wide phenotypic spectrum with high prevalence of cerebral bleeding. The absence of thrombosis is possibly explained by the young age of patients. We confirmed that bone pain is a frequent complication of afibrinogenaemia. Optimal management of this symptom require further investigations.
Session topic: E-poster
Keyword(s): Bleeding, Fibrinogen
Type: Eposter Presentation
Background
Congenital afibrinogenaemia has an estimated prevalence of one in 1,000000. The afibrinogenemic patients’ phenotype is mainly characterised by bleeding but thromboses, bone pain and delayed wound healing have also been reported
Aims
To describe the phenotypic spectrum and bleeding incidence of an Egyptian afibrinogenaemic cohort
Methods
All patients with a confirmed congenital afibrinogenaemia (based on fibrinogen levels and genotype) were included. Patients were followed regularly every 1-12 months over a period of 1 to 10 years. All bleeding episodes and fibrinogen replacements were recorded.
Results
Twenty-one patients (13 males, 8 females) with a mean age of 12.9 years from 15 consanguineous families were included.They were followed for a median period of 9 years.The bleeding phenotype was characterized by umbilical bleeding (65%), oral bleeding and epistaxis (45%), central nervous system haemorrhage (25%), joint bleeds (25%), hematochezia (10%), peritoneal bleeding (10%), hematuria (5%), spinal hemorrhage (5%), muscle bleeds (5%). Most women in child bearing period reported menorrhagia (75%). In addition, 15% of patients experienced a delayed wound healing and all had post-traumatic bleeding. Half of patients (57%) had atypical bleeds in the form of spontaneous unexplained severe bone pain in forearms and lower limbs, relieved by fibrinogen replacement. Overall, the incidence of severe bleeding varied from 1 to 5 bleeds/pt/years although one patient had weekly hemorrhages. No patients had arterial or venous thrombosis.All patients were on demand therapy but one with recurrent cerebral bleeding on biweekly prophylaxis. Replacement fibrinogen included cryoprecipitate 15-20 mg/kg/d for mild to moderate bleeds and 30mg/kg/12-24 hours for severe/serious bleeds for a period ranging from 1-5 days.
Conclusion
Our cohort showed a wide phenotypic spectrum with high prevalence of cerebral bleeding. The absence of thrombosis is possibly explained by the young age of patients. We confirmed that bone pain is a frequent complication of afibrinogenaemia. Optimal management of this symptom require further investigations.
Session topic: E-poster
Keyword(s): Bleeding, Fibrinogen
Abstract: E998
Type: Eposter Presentation
Background
Congenital afibrinogenaemia has an estimated prevalence of one in 1,000000. The afibrinogenemic patients’ phenotype is mainly characterised by bleeding but thromboses, bone pain and delayed wound healing have also been reported
Aims
To describe the phenotypic spectrum and bleeding incidence of an Egyptian afibrinogenaemic cohort
Methods
All patients with a confirmed congenital afibrinogenaemia (based on fibrinogen levels and genotype) were included. Patients were followed regularly every 1-12 months over a period of 1 to 10 years. All bleeding episodes and fibrinogen replacements were recorded.
Results
Twenty-one patients (13 males, 8 females) with a mean age of 12.9 years from 15 consanguineous families were included.They were followed for a median period of 9 years.The bleeding phenotype was characterized by umbilical bleeding (65%), oral bleeding and epistaxis (45%), central nervous system haemorrhage (25%), joint bleeds (25%), hematochezia (10%), peritoneal bleeding (10%), hematuria (5%), spinal hemorrhage (5%), muscle bleeds (5%). Most women in child bearing period reported menorrhagia (75%). In addition, 15% of patients experienced a delayed wound healing and all had post-traumatic bleeding. Half of patients (57%) had atypical bleeds in the form of spontaneous unexplained severe bone pain in forearms and lower limbs, relieved by fibrinogen replacement. Overall, the incidence of severe bleeding varied from 1 to 5 bleeds/pt/years although one patient had weekly hemorrhages. No patients had arterial or venous thrombosis.All patients were on demand therapy but one with recurrent cerebral bleeding on biweekly prophylaxis. Replacement fibrinogen included cryoprecipitate 15-20 mg/kg/d for mild to moderate bleeds and 30mg/kg/12-24 hours for severe/serious bleeds for a period ranging from 1-5 days.
Conclusion
Our cohort showed a wide phenotypic spectrum with high prevalence of cerebral bleeding. The absence of thrombosis is possibly explained by the young age of patients. We confirmed that bone pain is a frequent complication of afibrinogenaemia. Optimal management of this symptom require further investigations.
Session topic: E-poster
Keyword(s): Bleeding, Fibrinogen
Type: Eposter Presentation
Background
Congenital afibrinogenaemia has an estimated prevalence of one in 1,000000. The afibrinogenemic patients’ phenotype is mainly characterised by bleeding but thromboses, bone pain and delayed wound healing have also been reported
Aims
To describe the phenotypic spectrum and bleeding incidence of an Egyptian afibrinogenaemic cohort
Methods
All patients with a confirmed congenital afibrinogenaemia (based on fibrinogen levels and genotype) were included. Patients were followed regularly every 1-12 months over a period of 1 to 10 years. All bleeding episodes and fibrinogen replacements were recorded.
Results
Twenty-one patients (13 males, 8 females) with a mean age of 12.9 years from 15 consanguineous families were included.They were followed for a median period of 9 years.The bleeding phenotype was characterized by umbilical bleeding (65%), oral bleeding and epistaxis (45%), central nervous system haemorrhage (25%), joint bleeds (25%), hematochezia (10%), peritoneal bleeding (10%), hematuria (5%), spinal hemorrhage (5%), muscle bleeds (5%). Most women in child bearing period reported menorrhagia (75%). In addition, 15% of patients experienced a delayed wound healing and all had post-traumatic bleeding. Half of patients (57%) had atypical bleeds in the form of spontaneous unexplained severe bone pain in forearms and lower limbs, relieved by fibrinogen replacement. Overall, the incidence of severe bleeding varied from 1 to 5 bleeds/pt/years although one patient had weekly hemorrhages. No patients had arterial or venous thrombosis.All patients were on demand therapy but one with recurrent cerebral bleeding on biweekly prophylaxis. Replacement fibrinogen included cryoprecipitate 15-20 mg/kg/d for mild to moderate bleeds and 30mg/kg/12-24 hours for severe/serious bleeds for a period ranging from 1-5 days.
Conclusion
Our cohort showed a wide phenotypic spectrum with high prevalence of cerebral bleeding. The absence of thrombosis is possibly explained by the young age of patients. We confirmed that bone pain is a frequent complication of afibrinogenaemia. Optimal management of this symptom require further investigations.
Session topic: E-poster
Keyword(s): Bleeding, Fibrinogen
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