The role of primary prophylactic factor replacement therapy in children with severe factor X deficiency.
Severe factor X (FX) deficiency is one of the severest inherited coagulation disorders. Clinical manifestations include umbilical cord, mucosal, joint and central nervous system bleeding. Four Irish children with severe FX deficiency presented with umbilical cord bleeding. One developed an intraperitoneal haemorrhage and another an intracranial bleed. Prophylaxis, using intermediate purity Factor IX concentrate, was commenced within the first month of life, necessitating the insertion of central venous access devices in two of the children. All children have normal joint function, suggesting that prophylaxis commenced early in life reduces the incidence of arthropathy and improves quality of life.
McMahon
Corrina
C
National Centre for Hereditary Coagulation Disorders, AMNCH, and St James' Hospital Dublin, Ireland.
Smith
Judith
J
Goonan
Collette
C
Byrne
Mary
M
Smith
Owen P
OP
D000293:Adolescent; D001779:Blood Coagulation Factors / Q000627:therapeutic use*; D002408:Catheters, Indwelling; D002648:Child; D005171:Factor X Deficiency / Q000235:genetics / Q000517:prevention & control*; D005260:Female; D006474:Hemorrhagic Disorders / Q000209:etiology / Q000517:prevention & control*; D006801:Humans; D008297:Male; D010375:Pedigree
D001779:Blood Coagulation Factors; C025667:prothrombin complex concentrates