What is the role of the Val34Leu mutation in the etiology of factor XIII (FXIII) deficiency?

Updated: Mar 09, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Perumal Thiagarajan, MD  more...
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Data in the literature conflict regarding the impact of the common FXIII subunit A Val34Leu mutation (associated with higher plasma transglutaminase activity) on thrombotic disease. Note the following:

  • The Val34Leu mutation continues to be studied in different populations because current data provide conflicting evidence about its causal role in coronary artery disease. The Val34Leu mutation appears to protect whites but not Asian Indians from myocardial infarction. However, in the Asian Indian population in Britain, a strong link was found between FXIII subunit B levels and risk factors for cardiovascular disease and, possibly, insulin resistance. [82]

  • In separate studies, a higher frequency of the Val34Leu mutation was found in whites with primary intracerebral hemorrhage; however, the mutation reportedly was associated with a reduction in brain infarcts.

A possible cooperative interaction between the Val34Leu mutation and other known thrombophilic mutations also has been explored. Note the following:

  • In a study of patients from southern France, a higher than usual odds ratio was found for the association between carriers of an angiotensin receptor mutation and coronary artery disease, but no association was found between the disease and any of the FXIII polymorphisms that were studied. [83]

  • A study of the contribution of the Val34Leu mutation to thrombotic risk in a large number of carriers of factor V Leiden (who were relatives of thrombotic probands with factor V Leiden) found a very modest contribution of the Val34Leu mutation to venous thrombotic disease. [84]

  • This study contrasts with a report of a protective role of the mutation in venous thrombosis. [85]

  • A review by Kohler discusses the possible role of FXIII in vascular diseases. [86] The FXIII Val34Leu mutation does not appear to influence the induction or modification of the course of inflammatory bowel disease.

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