Abstract Number: PB1213
Meeting: ISTH 2020 Congress
Background: Afibrinogenemia is a rare hereditary bleeding disorder associated with severe bleeding phenotype and thromboembolic event. It is characterized by absence of fibrinogen with a complex physiopathology. Bones pain related to bones cysts have been described as rare complication
Aims: We report the clinical characteristic of bone pain in the Lebanese afibrinogenemic patient.
Methods: It is a retrospective descriptive study in a well-defined cohort during a follow up of 16 years
Results: 20 patient complain of spontaneous recurrent skeletal pain with no obvious trigger factor. There was 7/29 women and 13/39 men. Pain was described from age 5 till 25 with a maximum of crisis at the adolescence period. There is no specific rhythmicity. Some patients do not complain anymore. Pain was localized in the femur, tibia, humerus and spine. It was described as intermittent low intensity crises at the beginnings with periods of rest the first 24h. It increases over time to became continuous intolerable preventing sleep and activity after 48h. Pain resolved after fibrinogen substitution. A substitution with a target level of 1g prevent crisis 15 to 21 day. There was no correlation with spleen rupture or thromboembolic event. No fracture was observed in the cohort.
MRI of femur, tibia, humerus and spine was performed in 10 patients on several time during follow up. Several lesions were observed: abnormal intra-medullary fluid signal with heterogeneous T2 and T1 hypersignal and intermediate signal T1 in connection with subacute hemorrhagic suffusions, diffuse central medullary bone edema of all the diaphysis and metaphysis, circumferential signal anomalies type hyper T2 around the cortex of the diaphysis in connection with a probable periostitis and lack of fluid in the joints. the study of the MRI lesions promotes hemorrhagic etiology.
Conclusions: Bone pain is a frequent complication that could be prevented by prophylaxis. Studies are needed for a better understanding.
To cite this abstract in AMA style:Djambas Khayat C, Younane T. Evaluation of the Skeletal Lesions in the Lebanese Patients with Afibrinogenemia [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/evaluation-of-the-skeletal-lesions-in-the-lebanese-patients-with-afibrinogenemia/. Accessed September 22, 2023.
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