Afibrinogenaemia: from birth to home treatment

Introduction: Afibrinogenaemia (fibrinogen 100 seconds (Neonatal range 10 to 15) and APTT >200 seconds (Neonatal range 21 to 50). Fibrinogen by Clauss assay was undetectable (range 1.9 to 4.3 g/L). Further mixing tests with... [ view full abstract ]

Introduction: Afibrinogenaemia (fibrinogen <1%) is a rare autosomal recessive severe bleeding disorder affecting 1 in 1 million people. Signs include bleeding from the umbilical cord, bleeding from the gums, epistaxis, gastrointestinal bleeding, genito-urinary and intra-cranial haemorrhage. Long term prophylaxis with fibrinogen concentrate is recommended in patients with afibrinogenaemia (Mumford et al 2014).

Aim: To illustrate and discuss the training of parents to:
• care for and access a central venous access device
• reconstitute and administer coagulation factor concentrate

Case History: Baby A, the first child of non- consanguineous parents, was investigated for a bleeding disorder because of profuse oozing from venepuncture sites. Coagulation screen revealed PT >100 seconds (Neonatal range 10 to 15) and APTT >200 seconds (Neonatal range 21 to 50). Fibrinogen by Clauss assay was undetectable (range 1.9 to 4.3 g/L). Further mixing tests with normal plasma indicated a diagnosis of afibrinogenemia, later confirmed by immunological assay.

Baby A was treated with fibrinogen via an umbilical venous catheter for the first 9 days of life followed by the insertion of a Broviac catheter allowing Baby A to be treated at home. At one year old Baby A had a port - a - cath inserted and continues to be treated with fibrinogen at home. This case history illustrates the education and nursing care given to Baby A and his parents during the first two years of life.