Dysfibrinogenemia and thrombosis.

OBJECTIVES

To review the state of the art relating to congenital dysfibrinogenemia as a potential risk factor for thrombosis, as reflected by the medical literature and the consensus opinion of recognized experts in the field, and to make recommendations for the use of laboratory assays for assessing this thrombotic risk in individual patients.

DATA SOURCES

Review of the medical literature, primarily from the last 10 years.

DATA EXTRACTION AND SYNTHESIS

After an initial assessment of the literature, key points were identified. Experts were assigned to do an in-depth review of the literature and to prepare a summary of their findings and recommendations. A draft manuscript was prepared and circulated to every participant in the College of American Pathologists Conference on Diagnostic Issues in Thrombophilia. Each of the key points and associated recommendations were then presented for discussion at the conference. Recommendations were accepted if a consensus of experts attending the conference was reached. The results of the discussion were used to revise the manuscript into its final form.

CONCLUSIONS

Consensus was reached on 5 conclusions and 2 recommendations concerning the use of testing for dysfibrinogens in the assessment of thrombotic risk in individual patients. Detailed discussion of the rationale for each of these recommendations is found in the text of this article. Compared with the other, more common hereditary thrombophilias, dysfibrinogenemia encompasses a diverse group of defects with varied clinical expressions. Congenital dysfibrinogenemia is a relatively rare cause of thrombophilia. Therefore, routine testing for this disorder is not recommended as part of the laboratory evaluation of a thrombophilic patient. This is an evolving area of research, and further clinical studies may change these recommendations in the future.