Abstract Number: PB0696
Meeting: ISTH 2021 Congress
Background: Hereditary factor XIII deficiency (FXIIID) is a rare autosomal recessive disease, characterized by late bleeding, including intracranial hemorrhage. Accurate diagnosis and early institution of prophylaxis with FXIII concentrate are the key to a normal survival of the person with FXIIID. However, the diagnosis of FXIIID is challenging since conventional coagulation tests are normal. Clot solubility tests are not standardized and have low sensitivity, and are not recommended as routine screening, although they are the first test – and perhaps the only test – in several hemostasis laboratories. Quantitative FXIII activity tests are recommended, but many laboratories are not properly equipped. Mutation research complements the diagnosis. For these reasons, it is recommended to carry out the diagnosis in reference laboratories.
Aims: The Project BR-13 aims at implementing a center specialized in the diagnosis of FXIIID at the Hemocentro da Paraíba (Blood Center of Paraíba; HEMOÍBA, João Pessoa/Brazil) and at the University of the State of Paraíba (UEPB, Campina Grande/Brazil).
Methods: All index cases previously diagnosed by urea clotting assays will be tested for FXIII activity and typing of deficiency A or B (HEMOÍBA), as well as analyzing the disease-related mutation (UEPB). Clinical data will be reviewed from the medical records using a validated form. Based on the heredogram of index cases, first-degree relatives will be investigated in the same way.
Results: In 2015, there were 64 people with FXIIID registered by the Brazilian Ministry of Health (prevalence of 1:3 million inhabitants). We expect to include 32 index cases initially, and then 64 first-degree relatives. The centers involved so far have 37 people with FXIIID, from four of the five regions in Brazil.
Conclusions: We intend to create a national reference diagnostic center, to accurately investigate new cases and to guarantee an adequate treatment follow-up.
To cite this abstract in AMA style:Camelo R, Moreira J, Pires Filho LI, Franco V, Ferreira CB, de Souza LCCM, Tenório MD, Figueiredo S, Lopes S. Implementation of a National Reference Service for Activity Testing, Typing, and Genotyping of Hereditary Factor XIII Deficiency (Project BR-13) [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 1). https://abstracts.isth.org/abstract/implementation-of-a-national-reference-service-for-activity-testing-typing-and-genotyping-of-hereditary-factor-xiii-deficiency-project-br-13/. Accessed September 16, 2021.
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