Factor VII Deficiency: Clinical Phenotype, Epidemiology and Treatment Modalities (in a cohort of 66 patients followed and treated at Cliniques Universitaires Saint-Luc)

Details

Supervisors

Hermans, Cédric

Faculty

Faculté de médecine et médecine dentaire

Degree label

Master [180] en médecine

Abstract

Abstract. Background: FVII deficiency is the most frequent coagulation factor deficiency among rare congenital bleeding disorders with an estimated prevalence between 1/300.000 and 1/500.000. It is a recessive autosomal disease and should be found in equal proportions in women and in men. We studied a cohort of 66 patients, reviewed their symptomatology and assessed their treatment modalities. Findings/results: Out of 66 patients, 48 were women and 18 were men, this difference was expected because women are more symptomatic due to their gynaecological bleedings. Their age varied between 8 months old and 68 years, (median age 27.11 yr). FVII plasma level activity ranged between <1% and 63%, (median 29.7%). As consanguinity is not common in Belgium, our cohort is mainly representative of non-severe FVII deficiency with patients either asymptomatic (47%) or experiencing mild mucocutaneous bleedings that do not endanger their life. Following menorrhagia that affects 34.1% of females of fertile age, easy bruising is the most common haemorrhagic symptom in the general population with a prevalence of 19%. Due to this poor symptomatology, the vast majority of patients (42.4%) are diagnosed on serendipitous findings, mostly during pre-surgical laboratory work-up. The second most common circumstance of diagnosis is recommended familial screening after one member has been diagnosed (28.8%). Only 12% were diagnosed based on haemorrhagic symptoms. Thirty patients underwent various surgeries when unaware of their deficiency and reported no complications or non-severe bleeding with no blood transfusion needed. We treated all patients undergoing surgery with Tranexamic Acid 20 mg/kg 3x/day and only one mild bleeding was reported. One patient was treated with rFVIIa (Novoseven®) at the occasion of a neurosurgery as it is a high risk procedure. In conclusion, our cohort is mainly representative of non-severe FVII deficiency. There is a low proportion of symptomatic patients and the symptoms reported are mild mucocutaneous bleeding and menorrhagia. Because of this poor symptomatology, most patients are diagnosed incidentally with laboratory findings showing an isolated prolonged PT in the setting of a normal liver function or during a familial screening. In patients suffering from non-severe FVII deficiency, treatment is only required in case of invasive procedures or bleeding symptoms. They usually can safely undergo surgical procedures under the cover of Tranexamic Acid but rFVIIa should always be easily available if needed.