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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

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Published on: September 9, 2012

Factor XIII deficiency: an update.

Verena Schroeder¹, Hans P Kohler

¹University Clinic of Hematology, Hemostasis Research Laboratory, University Hospital, University of Bern, Bern, Switzerland.

Seminars in Thrombosis and Hemostasis

|August 10, 2013

Summary

This summary is machine-generated.

Congenital factor XIII (FXIII) deficiency is a rare bleeding disorder often missed due to diagnostic challenges. Improved awareness and newer assays are crucial for accurate diagnosis and better patient care.

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Area of Science:

Hematology
Rare Diseases
Genetic Disorders

Background:

Congenital factor XIII (FXIII) deficiency is a rare bleeding disorder.
Diagnosis is often challenging due to lack of awareness, sampling issues, and assay interpretation difficulties.
Missed diagnoses can lead to severe, potentially fatal bleeding complications.

Purpose of the Study:

To provide a comprehensive overview of congenital FXIII deficiency.
To highlight the importance of understanding FXIII properties and assay principles to prevent missed diagnoses.
To update on diagnostic assays and therapeutic options for FXIII deficiency.

Main Methods:

Review of current literature on congenital FXIII deficiency.
Analysis of biochemical properties, molecular genetics, and epidemiology.
Evaluation of diagnostic assay principles and limitations.
Overview of current therapeutic strategies.

Main Results:

Congenital FXIII deficiency remains a diagnostic challenge globally.
Lack of awareness and assay limitations contribute to missed diagnoses.
Newer, specific FXIII assays offer improved diagnostic accuracy.
Updated therapeutic options are available for affected patients.

Conclusions:

Enhanced knowledge of FXIII deficiency and improved diagnostic approaches are essential.
Utilizing newer assays can significantly reduce missed diagnoses.
Timely diagnosis and appropriate management improve patient outcomes for this life-threatening condition.