Rare coagulation factor deficiencies: a countrywide screening data from India

Abstract

As compared to haemophilia, although the clinical features and the management strategies for rare coagulation factor deficiencies are discussed, little is known about them. This study was undertaken to assess the distribution, clinical presentation and treatment of patients with rare coagulation factor deficiency disorders in a cross-sectional population of India. Blood samples and other clinical details from patients suspected of rare coagulation factor deficiencies were collected by the Haemophilia Treatment Centers across India and were diagnosed at National Institute of Immunohaematology, Mumbai. A total of 321 cases of rare clotting factor deficiencies were diagnosed, of which 88% were severe, 10% moderate and 2% mild. Commonest deficiency encountered was factor XIII (FXIII) (30%) followed by FX (15.6%), FVII (15%), fibrinogen (12.1%), FXI (9%), combined V and VIII deficiency (5.6%) and congenital multiple vitamin K-dependent coagulation factor deficiency (MCFD, 2.1%). Major representation of these deficiencies was from Southern and Western India (82%). Mucocutaneous bleeding was the commonest clinical presentation (59%); intracranial (IC) haemorrhage was seen in 18% of the patients; menorrhagia was an important clinical pointer in women in the reproductive age group (78%); 8% of the severe cases had no history of bleeding and 73% of the FXIII deficiency cases had umbilical stump bleeding. The major therapeutic products used was fresh frozen plasma (64%), cryoprecipitate (15%), whole blood (15%), antifibrinolytics (5%) and recombinant FVIIa (1%). A distinct pattern in the distribution of rare clotting factor deficiencies was observed which was based on multiple factors that include ethnicity and the available diagnostic facilities in different regions of this vast country.

Gynaecological and obstetrical bleeding in women with factor XI deficiency – a systematic review

“…A total of 268 women with FXI deficiency were included in ten studies (see Table ), in 56 of whom (21%) heavy menstrual bleeding was reported.…”

“…Studies describe patients as having either severe or non-severe (or partial or mild or heterozygote) FXI deficiency. The most frequently used definition classifies [14,15,17,18,[23][24][25]34] FXI <20 IU dL À1 as severe FXI deficiency and FXI between ≥20 IU dL À1 to <70 IU dL À1 as non-severe FXI deficiency.…”

“…Prevalence of heavy menstrual bleeding in FXI deficiency. A total of 268 women with FXI deficiency were included in ten studies [12,[14][15][16]19,20,25,28,33,34] (see Table 1), in 56 of whom (21%) heavy menstrual bleeding was reported.…”

Future of Haemophilia Research in India

“…Registries often drives significant amount of research in that disorder [6]. It also has important implications for the health planners for resource redistribution and strengthen in diagnosis and management capabilities in the areas of the country where it is most required.…”

Future of Haemophilia Research in India

“…Registries often not only drive significant amount of research in that disorder [6] with important implications for health planners in resource redistribution, strengthen diagnosis and management in areas where it is most required, allow comparisons of wellbeing and prevalence of various complications within that disorder with other countries' registry data [7,8], they also stimulate wellbalanced clinical trials which are statistically robust and many such trials allow patients to receive expensive therapeutic interventions free-of-cost.…”