Chronic Fatigue Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Chronic Fatigue Syndrome, including details on myalgic encephalomyelitis (me), diagnosis, gradual and sudden onset.

Two generations with familial thrombotic thrombocytopenic purpura.

Rodrigues RG

Department of Pediatrics, Penn State Milton S. Hershey Medical Center, Hershey, PA 17033, USA. ruisox@yahoo.com

Thrombotic thrombocytopenic purpura (TTP) is a rare multi-system disease characterised by the pentad of microangiopathic haemolytic anaemia, thrombocytopenia, renal dysfunction, fever and neurologic changes. A hereditary form of recurrent familial TTP has been described, which usually presents in adolescence or early adulthood and can lead to recurrent or chronic relapsing TTP. Genetic analyses of patients with familial TTP have linked the disease to chromosome 9q34, and an increased incidence is seen in people with HLA-B40 group antigens. We describe here an 11-year-old Egyptian girl with no significant past medical history who presented with new onset of bruising, petechial rash, fatigue and fevers and was diagnosed with familial TTP. Further testing revealed that both the patient and her father had the HLA-B40 group antigen and also had ADAMTS-13 von Willebrand factor-cleaving protease deficiency as well as factor-H deficiency.

Published 13 January 2006 in Int J Clin Pract, 60(1): 95-8.
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