How do we encounter rare factor deficiencies in children? Single-centre results from Turkey.
BACKGROUND
Rare factor deficiencies (RFDs) are autosomal recessively inherited coagulation factor deficiencies encountered at a frequency of between one in 500, 000 and one in two million.


METHODS
One hundred and ninety-two patients, diagnosed as having RFD, followed and treated in our clinic between 1990 and 2013 were retrospectively evaluated in this study.


RESULTS
From the 192 patients, 142 had FVII, 15 had FX, 14 had FXI, 10 had fibrinogen, six had FV, two had FXIII, two had FV + FVIII and one had FII deficiency. One hundred and thirty of the cases were boys and 62 were girls. The age range was 2 weeks to 24 years and the ages at the admission were between 2 weeks and 16 years. The rate of consanguinity was 49.4%. Eighty-eight of our patients were asymptomatic (45.8%) and 104 were symptomatic (54.2%). Asymptomatic patients were diagnosed by family histories (39.8%), preoperative laboratory studies (54.6%) and operational bleeding (5.6%). Sixty-eight of our symptomatic patients displayed grade II (65.4%) and 36 displayed grade III bleeding symptoms (34.6%). First bleeding regions were skin (33%), nose (28%), central nervous system (CNS) (15.5%), oral cavity (10.5%), soft tissue (6%), joint (3%), urinary system (2%) and gastrointestinal system (GIS) (2%), respectively. The bleeding prevalence rates of our symptomatic patients are listed as epistaxis 62.5%, skin bleedings 53%, oral cavity bleeding 28.8%, haematomas 18.3%, CNS bleedings 17.3%, haemarthrosis 14.4%, GIS bleedings 3.8%, menorrhagia 2.9%, haematuria 1.9%, bleeding because of operations 1.9% and iliopsoas bleedings 1.9%. CNS bleedings (41%) take the first place among the serious bleedings of our cases, followed by haemarthrosis (36.4%), GIS bleedings (18.1%) and iliopsoas bleedings (4.5%). Prophylaxy was applied to nine patients (five patients with FVII, two patients with fibrinogen and one each with FV and FX deficiency).


CONCLUSIONS
The characteristics of clinical presentations, first bleeding attacks, bleeding prevalence and severe bleedings as well as prophylactic approaches are discussed in this article.
aDepartment of Pediatric Hematology and Oncology, İstanbul Kanuni Sultan Suleyman Education and Research Hospital bDepartment of Internal Medicine, Cerrahpasa Medical School, İstanbul University, Istanbul, Turkey.
Deniz
D
Tugcu
Zafer
Z
Salcioglu
Arzu
A
Akcay
Hülya S
HS
Sen
Gönül
G
Aydogan
Ferhan
F
Akici
Gonca
G
Keskindemirci
Nuray A
NA
Ayaz
Zafer
Z
Baslar
D002648:Child; D002675:Child, Preschool; D020147:Coagulation Protein Disorders / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D035583:Rare Diseases / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology; D012189:Retrospective Studies; D014421:Turkey / Q000453:epidemiology