Seyed Mehrab Safdari: Unmasking Factor VII Padua to Prevent Unnecessary Therapy and Thrombotic Risk
Seyed Mehrab Safdari, Molecular Laboratory Technician at Tehran University of Medical Sciences, shared a post on LinkedIn ab0ut a recent article he and his colleagues co-authored, published in Haemophilia, adding:
“Thrombosis in a rare bleeding disorder?!
This paradox was one of the most intriguing aspects of my MSc thesis, where I investigated Factor VII Padua, an ultra-rare subtype of type II Factor VII deficiency caused by the F7 c.1091G>A (p.Arg364Gln) variant.
FVII Padua presents several diagnostic challenges:
- FVII activity is highly thromboplastin-dependent. Rabbit-brain thromboplastin may show severely reduced activity, while human-placental or recombinant human thromboplastins can yield substantially higher values.
- The clinical phenotype is highly variable, ranging from asymptomatic individuals to patients with mild or moderate bleeding.
- Thrombosis can occur despite markedly reduced FVII activity, making accurate diagnosis particularly important.
In our cohort of 150 Iranian patients with FVII deficiency, 13 (8.6%) showed PT patterns suggestive of FVII Padua. HRM identified 9 heterozygous and 2 homozygous cases, while sequencing confirmed the p.Arg364Gln variant in 2 patients. Four additional exon 9 variants were also identified.
The confirmed Padua cases showed diverse clinical manifestations, including bruising, epistaxis, gastrointestinal bleeding, and gum bleeding.
Therefore,accurate recognition of FVII Padua is essential because thromboplastin-dependent laboratory results may complicate diagnosis and potentially lead to unnecessary replacement therapy and increased thrombotic risk.
This project reinforced an important lesson in haemostasis:
A very low factor level does not always tell the whole story.”
Title: Factor VII Padua in Iran: A Study on 150 Patients With Factor VII Deficiency
Authors: Seyed Mehrab Safdari, Mahmood Barati, Soudabeh Hosseini, Ebrahim Kalantar, Farhad Zaker, Akbar Dorgalaleh
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