Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women

Table 3

Distribution of the thrombophilic mutations identified in our study cohort.

APC	Mutations identified/subjects tested	Frequency from the subset of subjects tested in each group (*1) (*2), (*3).	Frequency from the total cohort 𝑛=907	Thrombophilic mutations identified
(*1) 𝑛=140	Positive APCR (inherited and acquired)
	67/140	47.8%	7.3%	MTHFR-C677T (54ht13hom)
	3 /140	2.1%	0.3%	ht prothrombin G20210A
	16/140	11.4%	1.7%	ht (H) R2
	29/140	20.7%	3.1%	ht FV Leiden
	1/140	0.7%	0.1%	ht Cambridge
	48/140	31.4%	3.9%	no mutation
(*2) 𝑛=105	Positive APCR (acquired)
	51/105	48.5%	5.6%	MTHFR -C677T (38ht13hom)
	3/105	2.8%	0.3%	ht Prothrombin G20210A
	16/105	15.2%	1.7%	ht(H) R2
	44/105	41.9%	4.8%	no mutations
(*3) 𝑛=31	Negative APCR
	5/31	16.1%	0.6%	ht (H) R2
	13/31	41.9%	1.7%	MTHFR-C677T
	13/31	41.9%	1.7%	No mutation

(*1) 𝑛=140 are subjects with total APCR (acquired +modified).
(*2) 𝑛=105 are subjects with acquired APCR, without inherited FVL.
(*3) 𝑛=31 are negative APCR subjects tested out of 767.
𝑛: Number of subjects; ht: Heterozygotes; hom: Homozygotes; H: Haplotype.
Subjects identified with more than one mutation simultaneously:
in the total APCR group, (inherited plus acquired) They had 13 subjects with MTHFR+FVL; 1subject with MTHFR + FVL + Cambridge; 7 subjects with MTHFR + HR2; 1 subject with prothrombin G20210A + HR2; and 1 subject with prothrombin G20210A + MTHFR; in the acquired APCR group, They had 7 subjects with MTHFR+HR2; 1 subject with prothrombin G20210A + HR2; 1 subject with prothrombin G20210A + MTHFR.