Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia
Alessandro Casini, Sylvia von Mackensen, Cristina Santoro, Claudia Djambas Khayat, Meriem Belhani, Cecil Ross, Akbar Dorgalaleh, Arshi Naz, Ekrem Ünal, Magy Abdelwahab, Elise Dupuis Lozeron, Nathalie Trillot, Sophie Susen, Flora Peyvandi, Philippe de Moerloose, QualyAfib Study Group, Meriem Bensadok, Aida Mohand-Oussaid, Amel Djenouni, Fatiha Grifi, Nadia Chiali, An Van Damme, Man-Chiu Poon, Georges Etienne-Rivard, Olejz Zapletal, Aurélien Lebreton, Claire Barro, Anne Harroche, Chantal Rothschild, Roseline D’Oiron, Jeanne Yvonne Borg, Pierre Chamouni, Virginie Barbay, Ségolène Claeyssens, Stefanie Roth, Wolfgang Miesbach, Karin Kurnik, Tulika Seth, Berardino Pollio, Alessandra Poz, Giovanni Barillari, Alberto Tosetto, Ilaria Nichele, Naohiro Kanayama, Tomoaki Oda, Mohammad Almahmeed, Roula Farah, Jerzy Windyga, Predrag Milijc, Tomas Simurda, Maria Garcia, Nino Haya, Johanna Kremer Hovinga, Marguerite Neerman-Arbez, Marten Nijziel, Rod Thompson, Toumi Nourelehouda, Namik Yasar Ozbek, Adalet Meral Günes, Ersin Toret, Sinan Akbayram, Nihal Ozdemir, Musa Karakukcu, Nermin Keni, Omer Kilic, Turkan Patiroglu, Rafe Hayek, Suchitra Acharya, Rita Marchi, Yraida Tersek Rodriguez, Alessandro Casini, Sylvia von Mackensen, Cristina Santoro, Claudia Djambas Khayat, Meriem Belhani, Cecil Ross, Akbar Dorgalaleh, Arshi Naz, Ekrem Ünal, Magy Abdelwahab, Elise Dupuis Lozeron, Nathalie Trillot, Sophie Susen, Flora Peyvandi, Philippe de Moerloose, QualyAfib Study Group, Meriem Bensadok, Aida Mohand-Oussaid, Amel Djenouni, Fatiha Grifi, Nadia Chiali, An Van Damme, Man-Chiu Poon, Georges Etienne-Rivard, Olejz Zapletal, Aurélien Lebreton, Claire Barro, Anne Harroche, Chantal Rothschild, Roseline D’Oiron, Jeanne Yvonne Borg, Pierre Chamouni, Virginie Barbay, Ségolène Claeyssens, Stefanie Roth, Wolfgang Miesbach, Karin Kurnik, Tulika Seth, Berardino Pollio, Alessandra Poz, Giovanni Barillari, Alberto Tosetto, Ilaria Nichele, Naohiro Kanayama, Tomoaki Oda, Mohammad Almahmeed, Roula Farah, Jerzy Windyga, Predrag Milijc, Tomas Simurda, Maria Garcia, Nino Haya, Johanna Kremer Hovinga, Marguerite Neerman-Arbez, Marten Nijziel, Rod Thompson, Toumi Nourelehouda, Namik Yasar Ozbek, Adalet Meral Günes, Ersin Toret, Sinan Akbayram, Nihal Ozdemir, Musa Karakukcu, Nermin Keni, Omer Kilic, Turkan Patiroglu, Rafe Hayek, Suchitra Acharya, Rita Marchi, Yraida Tersek Rodriguez
Abstract
Due to the low prevalence of afibrinogenemia, epidemiologic data on afibrinogenemia are limited, and no data are available on health-related quality of life (HRQoL). We conducted a cross-sectional international study to characterize the clinical features, the fibrinogen supplementation modalities, and their impact on HRQoL in patients with afibrinogenemia. A total of 204 patients (119 adults and 85 children) from 25 countries were included. The bleeding phenotype was severe: 68 (33.3%) patients having at least one bleed per month and 48 (23%) a history of cerebral bleeding. About 35% (n = 72) of patients were treated with fibrinogen concentrates or cryoprecipitates as prophylaxis, 18.1% (n = 37) received ≥1 injection per week, and 16.6% (n = 34) were on home treatment. A thrombotic event was reported in venous and/or arterial territories by 37 (18.1%) patients. Thrombosis occurred even in young patients, and recurrence was frequent (7.4%). The total HRQoL was lower in children than in adults. Discomfort linked to treatment and limitations to sports and leisure were the main concerns. Women and children were particularly affected in family relationships. In multivariate analyses, younger age, residence in Asia or Africa, and a previous thrombotic event were statistically correlated with a worse HRQoL. In summary, our study underlines the severe bleeding and thrombotic phenotype and their impact on HRQoL in afibrinogenemia. The optimal strategy for fibrinogen supplementation needs to be determined. This trial was registered at www.clinicaltrials.gov as #NCT03484065.
© 2021 by The American Society of Hematology.
Source: PubMed