Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review.

Nagler, Michael; Kremer Hovinga, Johanna Anna; Alberio, Lorenzo; Peter-Salonen, Kristiina; von Tengg-Kobligk, Hendrik; Lottaz, Daniel; Neerman-Arbez, Marguerite; Lämmle, Bernhard (2016). Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review. Thrombosis and haemostasis, 116(4), pp. 722-732. Schattauer 10.1160/TH16-02-0082

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Frequent arterial and venous thromboembolism in patients with congenital afibrinogenaemia (CA) is neither understood nor is a safe and effective treatment established. It was our objective to report on the clinical observations and laboratory data contributing to the understanding of the frequency, physiopathology, prognosis and treatment of CA. We observed the long-term clinical course and laboratory data in a cohort of four patients with CA and thromboembolic complications, and conducted a systematic review retrieving all available data. Four patients with CA developed recurrent and extensive arterial and venous thromboembolism (TE) from an age of 25-51 years. In two patients, a treatment strategy targeting at maintaining constantly measurable fibrinogen (Fbg) levels (≥0.5 g/l) either by regular Fbg replacement or by orthotopic liver transplantation resulted in long-term remissions. Radiological imaging documented resolved arterial thrombi after 6-12 months. In contrast, recurrent thromboembolic events were observed in two other patients with infrequent Fbg replacement. A systematic review of the literature revealed 48 reports of TE in patients with CA (median age at first event 31 years), and a favourable outcome in most patients with frequent application of Fbg, aimed at constantly measurable trough levels. Present data suggests that patients with CA are at high risk of arterial and venous thromboembolic events, probably caused by thrombin excess owing to lack of thrombin scavenging by Fbg/fibrin. Regular low-dose Fbg replacement might be a safe and effective treatment option in patients with CA and thromboembolic complications.

Item Type:

 Journal Article (Original Article)

Division/Institute:

 04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Hämatologie (Erwachsene)

UniBE Contributor:

 Nagler, Michael, Kremer Hovinga Strebel, Johanna Anna, Alberio, Lorenzo, von Tengg-Kobligk, Hendrik, Lämmle, Bernhard

Subjects:

 600 Technology > 610 Medicine & health

ISSN:

 0340-6245

Publisher:

 Schattauer

Language:

 English

Submitter:

 Katrin Kölliker-Schütz

Date Deposited:

 23 Jan 2017 15:45

Last Modified:

 02 Mar 2023 23:28

Publisher DOI:

 10.1160/TH16-02-0082

PubMed ID:

 27384135

Uncontrolled Keywords:

 Afibrinogenaemia; aortic disease; arterial occlusive disease; fibrinogen; peripheral vascular disease; thrombosis; venous thromboembolism

BORIS DOI:

 10.7892/boris.92529

URI:

 https://boris.unibe.ch/id/eprint/92529

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