Muckle-Wells cryopyrinopathy: complex phenotyping and response to therapy in a new multiplex kindred.

Muckle-Wells syndrome (MWS) is a member of the cryopyrin-associated periodic syndrome family of auto-inflammatory diseases, originally described as a triad of urticaria, sensorineural deafness and amyloidosis. IL-1 blockade is a proven therapy for MWS. The clinical, laboratory and genotypic characteristics of a novel kindred of five individuals with Muckle-Wells syndrome are described.

Pulmonary embolism associated with tranexamic acid in severe acquired haemophilia.

Tranexamic acid (an antifibrinolytic agent) is of proven benefit in the treatment of bleeding in patients with congenital and acquired coagulation disorders. We report the case of a patient with an acquired Factor VIII inhibitor, who was on a prophylactic dose of tranexamic acid because of recurrent bleeding episodes and developed a pulmonary embolism. Although studies using tranexamic acid have not shown a definite increased risk for the development of venous thrombosis, this is the likely cause of the pulmonary embolism in this patient.