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C0200 Clinical and biological features of Von Willebrand disease type 3: Report of a Tunisian series
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Abstracts / Thrombosis Research 130 (2012) S100–S202
bleeding allowing the diagnosis. Comment: Our molecular studies are underway. As reported, our study shows the lack of correlation between the severity of bleeding and biological data. Currently, there is no predictive test in bleeding risk and no consensus, making treatment decisions difficult.
doi:10.1016/j.thromres.2012.08.106
C0200 Clinical and biological features of Von Willebrand disease type 3: Report of a Tunisian series Fatma Ben Lakhal1, Wijdene El Borgi1, Naouel Ben Salah1, Kaouther Zahra2, Moez Zorguan2, Balkis Meddeb2, Raouf Hafsia1, Emna Gouider2 1 Aziza Othmana Hospital, Laboratory of Haematology - Place de la Kasba, Tunisia; 2Aziza Othmana Hospital, Hemophilia Treatment Center - Place de la Kasba, Tunisia Background: Von Willebrand disease (vWD) is the most common constitutional abnormality of hemostasis. It is characterized by considerable heterogeneity in clinical presentation. Its prevalence is 1%. The prevalence of the severe form is estimated between 0.5 and 5/1000000 people. The objective is to study the clinical and biological features in 25 patients with vWD type 3 treated in Hemophilia Treatment Center of Tunis. Methods: We evaluated clinical patterns: Family history, Parental consanguinity, Diagnosis circumstance and frequency of bleeding. FVIII assay is performed on STA Compact Stago®. The activity assay ristocetin cofactor is achieved by semi-quantitative method. The vWF: Antigen is tested by ELFA on mini VIDAS®. According to bleeding severity, we consider 2 groups: group 1 includes patients with 1 to 2 hemorrhagic symptoms per year. Group 2 includes patients reporting 3 or more hemorrhagic symptoms per year. Results: The median age is 3 years [9 months-43 years] with a sex ratio M / F 1.09. Parental consanguinity was noted in 11 cases. Family history was found in 7 cases. Diagnosis circumstance is a mucocutaneous hemorrhage in 13 cases, hematoma in 3 cases, gastrointestinal bleeding in 4 cases, hemarthrosis in 2 cases, a preoperative check up in a case and a family survey in two cases. 14 patients belongs to the group 1 and 11 patients belongs to the group 2. The cofactor activity to ristocetin is less than 0.8% in all patients. The rate of vWF: Ag b5% for all cases. The median FVIII: C is 2% [b1% -09%]. Comment: Among severity of deficiency, our study shows a wide clinical heterogeneity of Von Willebrand disease type 3. doi:10.1016/j.thromres.2012.08.107
C0204 Factor XIII deficiency: A family report Fatma Ben Lakhal1, Wijdene El Borgi1, Naouel Ben Salah1, Kaouther Zahra2, Moez Zorguan2, Hajer Mahmoudi2, Balkis Meddeb2, Raouf Hafsia1, Emna Gouider2 1 Aziza Othmana Hospital, Laboratory of Haematology - Place de la Kasba, Tunisia; 2Aziza Othmana Hospital, Hemophilia Treatment Center Place de la Kasba, Tunisia Background: Factor XIII is involved in the consolidation of the fibrin clot. The subunit α is the most concerned in factor XIII deficiencies. The FXIII deficiency is a rare recessive autosomic bleeding disorder with a prevalence of 1/3000000.
We report a case of FXIII deficiency diagnosed in a family with a review of literature. Methods: APTT, PT, Fibrinogen are performed on STA Compact Stago®. The dosage of FXIII:C is made on Stago FXIII screening. Results: A 3 months boy born from a vaginal delivery without complications presents lateral left tonico-clonic convulsions with apyrexia. Infectious and metabolic etiologies were excluded. MRI of the central nervous system showed non compressive bilateral hemispheric dural hematic collection and diffuse subarachnoid hemorrhage with median subdural bleeding. There was no family bleeding history. APTT, PT, Fibrinogen and Platelet count were normal. A delayed notion healing was noted. FXIII deficiency was suspected. FXIII assay showed a level of 32%. Family survey showed a moderate deficiency in the both parents: 25% in the father and 50% in the mother. The FXIII level in the brother was normal. Molecular studies did not show anomalies in all the exons of the α subunit. It is still ongoing. Comment: Although the deficiency was moderate, severe hemorrhagic symptoms were found. FXIII deficiency is usually associated with severe hemorrhagic manifestations in homozygous or double heterozygote. Intra cerebral bleeding is reported in 30% of the cases. No consanguinity was found in our family. Molecular studies in the β subunit are ongoing. doi:10.1016/j.thromres.2012.08.108
C0219 Inherited factor XI deficiency: A report of 11 cases and review of literature Wijdene Elborgi1, Fatma Ben Lakhal1, Naouel Ben Salah1, Kaouther Zahra2, Moez Zorguan2, Balkis Meddeb2, Raouf Hafsia1, Emna Gouider2 1 Aziza Othmana Hospital, Laboratory of hematology - Place de la Kasba, Tunisia; 2Aziza Othmana Hospital, Hemophilia Treatment Center - Place de la Kasba, Tunisia Background: Factor XI deficiency is a rare inherited bleeding disorder. It is mainly expressed during trauma or surgery, especially when high fibrinolytic activity is concerned. It is wide spread in some populations particularly among Jews of Ashkenazi origin. We report a series of Tunisian congenital factor XI with a literature review. Methods: Our study is retrospective. It concerned 11 cases of congenital factor XI followed in the hemophilia treatment center of Tunis. PT, APTT, fibrinogen, FVIII, FIX and FXI was performed by STA Compact, Stago® in the hematology laboratory of Aziza Othmana. All cases with a deficient FXI are controlled on tow different samples. Results: The average patient age was 26 years with a sex ratio (M /F) of 1.75. Consanguinity was found in 4 cases. Family history of hemorrhagic syndrome was observed in 3 cases. The circumstances of discovery are often fortuitous as preoperative or during prolonged bleeding after tooth extraction. APTT is prolonged in 9 cases with a correction to the mixture test and normal in 2 cases. The PT, fibrinogen and platelet count were normal in all cases. The average factor XI is 25% (0.7 -43). No correlation was found between biological and clinical features. Associated factor deficiency was noted in tow cases: factor IX (1 case) and factor VIII (1 case). Factor XI concentrates are not available in our country. Patients are treated with tranexamic acid. We use fresh frozen plasma in case of bleeding persistence. Comment: We analyze the main epidemiological, clinical, laboratory characteristics and the therapeutic management. We report a literature review. doi:10.1016/j.thromres.2012.08.109
Abstracts / Thrombosis Research 130 (2012) S100–S202
bleeding allowing the diagnosis. Comment: Our molecular studies are underway. As reported, our study shows the lack of correlation between the severity of bleeding and biological data. Currently, there is no predictive test in bleeding risk and no consensus, making treatment decisions difficult.
doi:10.1016/j.thromres.2012.08.106
C0200 Clinical and biological features of Von Willebrand disease type 3: Report of a Tunisian series Fatma Ben Lakhal1, Wijdene El Borgi1, Naouel Ben Salah1, Kaouther Zahra2, Moez Zorguan2, Balkis Meddeb2, Raouf Hafsia1, Emna Gouider2 1 Aziza Othmana Hospital, Laboratory of Haematology - Place de la Kasba, Tunisia; 2Aziza Othmana Hospital, Hemophilia Treatment Center - Place de la Kasba, Tunisia Background: Von Willebrand disease (vWD) is the most common constitutional abnormality of hemostasis. It is characterized by considerable heterogeneity in clinical presentation. Its prevalence is 1%. The prevalence of the severe form is estimated between 0.5 and 5/1000000 people. The objective is to study the clinical and biological features in 25 patients with vWD type 3 treated in Hemophilia Treatment Center of Tunis. Methods: We evaluated clinical patterns: Family history, Parental consanguinity, Diagnosis circumstance and frequency of bleeding. FVIII assay is performed on STA Compact Stago®. The activity assay ristocetin cofactor is achieved by semi-quantitative method. The vWF: Antigen is tested by ELFA on mini VIDAS®. According to bleeding severity, we consider 2 groups: group 1 includes patients with 1 to 2 hemorrhagic symptoms per year. Group 2 includes patients reporting 3 or more hemorrhagic symptoms per year. Results: The median age is 3 years [9 months-43 years] with a sex ratio M / F 1.09. Parental consanguinity was noted in 11 cases. Family history was found in 7 cases. Diagnosis circumstance is a mucocutaneous hemorrhage in 13 cases, hematoma in 3 cases, gastrointestinal bleeding in 4 cases, hemarthrosis in 2 cases, a preoperative check up in a case and a family survey in two cases. 14 patients belongs to the group 1 and 11 patients belongs to the group 2. The cofactor activity to ristocetin is less than 0.8% in all patients. The rate of vWF: Ag b5% for all cases. The median FVIII: C is 2% [b1% -09%]. Comment: Among severity of deficiency, our study shows a wide clinical heterogeneity of Von Willebrand disease type 3. doi:10.1016/j.thromres.2012.08.107
C0204 Factor XIII deficiency: A family report Fatma Ben Lakhal1, Wijdene El Borgi1, Naouel Ben Salah1, Kaouther Zahra2, Moez Zorguan2, Hajer Mahmoudi2, Balkis Meddeb2, Raouf Hafsia1, Emna Gouider2 1 Aziza Othmana Hospital, Laboratory of Haematology - Place de la Kasba, Tunisia; 2Aziza Othmana Hospital, Hemophilia Treatment Center Place de la Kasba, Tunisia Background: Factor XIII is involved in the consolidation of the fibrin clot. The subunit α is the most concerned in factor XIII deficiencies. The FXIII deficiency is a rare recessive autosomic bleeding disorder with a prevalence of 1/3000000.
We report a case of FXIII deficiency diagnosed in a family with a review of literature. Methods: APTT, PT, Fibrinogen are performed on STA Compact Stago®. The dosage of FXIII:C is made on Stago FXIII screening. Results: A 3 months boy born from a vaginal delivery without complications presents lateral left tonico-clonic convulsions with apyrexia. Infectious and metabolic etiologies were excluded. MRI of the central nervous system showed non compressive bilateral hemispheric dural hematic collection and diffuse subarachnoid hemorrhage with median subdural bleeding. There was no family bleeding history. APTT, PT, Fibrinogen and Platelet count were normal. A delayed notion healing was noted. FXIII deficiency was suspected. FXIII assay showed a level of 32%. Family survey showed a moderate deficiency in the both parents: 25% in the father and 50% in the mother. The FXIII level in the brother was normal. Molecular studies did not show anomalies in all the exons of the α subunit. It is still ongoing. Comment: Although the deficiency was moderate, severe hemorrhagic symptoms were found. FXIII deficiency is usually associated with severe hemorrhagic manifestations in homozygous or double heterozygote. Intra cerebral bleeding is reported in 30% of the cases. No consanguinity was found in our family. Molecular studies in the β subunit are ongoing. doi:10.1016/j.thromres.2012.08.108
C0219 Inherited factor XI deficiency: A report of 11 cases and review of literature Wijdene Elborgi1, Fatma Ben Lakhal1, Naouel Ben Salah1, Kaouther Zahra2, Moez Zorguan2, Balkis Meddeb2, Raouf Hafsia1, Emna Gouider2 1 Aziza Othmana Hospital, Laboratory of hematology - Place de la Kasba, Tunisia; 2Aziza Othmana Hospital, Hemophilia Treatment Center - Place de la Kasba, Tunisia Background: Factor XI deficiency is a rare inherited bleeding disorder. It is mainly expressed during trauma or surgery, especially when high fibrinolytic activity is concerned. It is wide spread in some populations particularly among Jews of Ashkenazi origin. We report a series of Tunisian congenital factor XI with a literature review. Methods: Our study is retrospective. It concerned 11 cases of congenital factor XI followed in the hemophilia treatment center of Tunis. PT, APTT, fibrinogen, FVIII, FIX and FXI was performed by STA Compact, Stago® in the hematology laboratory of Aziza Othmana. All cases with a deficient FXI are controlled on tow different samples. Results: The average patient age was 26 years with a sex ratio (M /F) of 1.75. Consanguinity was found in 4 cases. Family history of hemorrhagic syndrome was observed in 3 cases. The circumstances of discovery are often fortuitous as preoperative or during prolonged bleeding after tooth extraction. APTT is prolonged in 9 cases with a correction to the mixture test and normal in 2 cases. The PT, fibrinogen and platelet count were normal in all cases. The average factor XI is 25% (0.7 -43). No correlation was found between biological and clinical features. Associated factor deficiency was noted in tow cases: factor IX (1 case) and factor VIII (1 case). Factor XI concentrates are not available in our country. Patients are treated with tranexamic acid. We use fresh frozen plasma in case of bleeding persistence. Comment: We analyze the main epidemiological, clinical, laboratory characteristics and the therapeutic management. We report a literature review. doi:10.1016/j.thromres.2012.08.109