Autoszomális recesszív
Caused by changes in both copies of KLKB1, which encodes plasma prekallikrein, a protein in the contact pathway of blood clotting. Each parent usually carries one changed copy.
Tünetek és jelek
Most people have no symptoms. The condition is usually found by chance when a routine clotting test, the activated partial thromboplastin time (aPTT), is prolonged. It generally does not cause bleeding problems.
Mit változtat a diagnózis
No treatment is needed. Knowing the cause avoids unnecessary investigations, delays to surgery or inappropriate treatment for a prolonged aPTT, so it is worth telling surgical and anaesthetic teams. Genetic counselling is available, though the condition is considered benign.
Vizsgált gének
Más néven
congenital prekallikrein deficiency; fletcher factor (prekallikrein) deficiency; hereditary prekallikrein deficiency
