Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism.
Resistance to activated protein C (APCR), in the majority of cases due to the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of venous thromboembolism. Using an activated thromboplastin time (aPTT) based method in the presence of APC together with a DNA technique based on the polymerase chain reaction, we investigated 37 children with venous (V: n=19) or arterial (A: n=18) thromboembolism and 196 age-matched healthy controls for the presence of this mutation. In the control group 10 children were detected to be heterozygous for the factor V Leiden mutation, indicating a prevalence of 5.1%. 10/19 children (52%) with venous thrombosis and 7/18 (38%) patients with arterial thromboembolism showed the common factor V gene mutation. Additional inherited coagulation disorders were found in 1/10 (V:10%) and 2/7 (A:28%) APC-resistant patients. Inherited coagulation disorders without APCR were diagnosed in 3/9 (V: 33%) and 2/11 (A:18%) children. Furthermore, we diagnosed exogenous risk factors in 6/10 (V: 60%) and 2/7 (A: 28%) children with thrombosis and APCR. These data are evidence that APCR combined with exogenous reasons may play an important role in the early manifestation of thromboembolism during infancy and childhood.
Nowak-Göttl
U
U
Department of Paediatrics, University Hospital Kiel, Germany.
Koch
H G
HG
Aschka
I
I
Kohlhase
B
B
Vielhaber
H
H
Kurlemann
G
G
Oleszcuk-Raschke
K
K
Kehl
H G
HG
Jürgens
H
H
Schneppenheim
R
R
D000293:Adolescent; D001796:Blood Protein Disorders / Q000150:complications / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D002542:Intracranial Embolism and Thrombosis / Q000209:etiology*; D018810:Magnetic Resonance Angiography; D008297:Male; D011446:Prospective Studies; D011486:Protein C / Q000378:metabolism*; D013923:Thromboembolism / Q000150:complications / Q000000981:diagnostic imaging / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
D011486:Protein C