warfarin and Intellectual-Disability

Homozygous protein C (PC) deficiency is reported in two siblings (girl and boy) who received their proper diagnoses at the ages of 7 4/12 and 1 3/12 years respectively. The girl had perinatal asphyxia without bleeding. At 1 year of age she developed purpura fulminans. Treatment with heparin and plasma was successful. At 7 4/12 years she developed tender, bluish nonnecrotic skin changes after an orthopedic operation. The PC level was 0.08 U/ml. The boy had had a large intraventricular hemorrhage neonatally and developed severe brain damage. At 1 3/12 years he manifested the same skin changes as his sister and was treated similarly. The PC level was 0.05 U/ml. Both children now receive warfarin continuously and are essentially free of symptoms. The cases represent homozygous phenotypes in a family with a recessive trait of PC deficiency without thrombotic disease. The cases also show that severe PC deficiency may be compatible with life beyond infancy without any specific therapy.

Topics: Blood Transfusion; Female; Hemorrhagic Disorders; Humans; Infant, Newborn; Intellectual Disability; Male; Pedigree; Plasma; Protein C; Protein C Deficiency; Warfarin

Topics: Abnormalities, Drug-Induced; Bone and Bones; Coumarins; Ear; Eye Abnormalities; Female; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Nose; Pregnancy; Risk; Warfarin

Sudden death in patients with severe motor and intellectual disabilities (SMID) is sometimes caused in part by pulmonary thromboembolism (PTE), and deep venous thrombosis (DVT) has drawn attention as a possible embolic source. Warfarin, which is a conventional therapeutic agent, is not easy to control appropriately, and daily management can be especially difficult in SMID patients. On the other hand, edoxaban tosilate hydrate, which has been newly approved for insurance coverage for the treatment of DVT, is not listed in the Guidelines for the Diagnosis, Treatment and Prevention of Pulmonary Thromboembolism and Deep Vein Thrombosis (DVT-PTE guidelines). The aim of this study is to evaluate the efficacy and safety of anticoagulation therapy (warfarin vs. edoxaban) in DVT treatment in SMID patients by means of an open-label, randomized controlled trial. The primary endpoint is the incidence of hemorrhagic events during 12 months of follow up.

Topics: Anticoagulants; Factor Xa Inhibitors; Hemorrhage; Humans; Intellectual Disability; Intelligence; Japan; Motor Activity; Motor Disorders; Multicenter Studies as Topic; Persons with Mental Disabilities; Pyridines; Randomized Controlled Trials as Topic; Thiazoles; Time Factors; Treatment Outcome; Venous Thrombosis; Warfarin