Beginning of the chapter Thrombosis, hormones and pregnancy (Thrombo Sensor) 37

THROMBOSIS Hormonal therapy and genetic risks All genes functional + = Risk x2 (common) Frequency: Normal state 20 years later: 1 of 237 affected Hormones 1 defective gene + = Risk x15 Hormones 2 defective genes + = Risk x 100+ Hormones Frequency: 1 of years later: 1 of 27 affected Frequency: 1 of years later: 1 of 6 affected

THROMBOSIS Pregnancy and thrombosis Thrombosis: A third of all deaths that occur during pregnancy Miscarriage Death of the mother (200,000 cases per year worldwide) 60% of the cases caused by genetic variations Mothers die every year due to genetic defects Heparin: Effective treatment against thrombosis safe for the embryo

THROMBOSIS Pregnancy All genes functional + = Risk x4 (normal) Pregnancy 1 defective gene + = Risk x60 Pregnancy 2 defective genes + = Risk x 160+ Pregnancy HEPARIN HEPARIN Risk x1 60% thrombosis fatalities 60% thrombosis fatalities

THROMBOSIS Recommendations for women nowadays Hormones? Family history? Thrombosis case Everything OK Is this correct?

GENETIK What must have happened so that the patient has inherited the risk? Risk x8 Grandmother 50% chance to be inherited Father Risk x8 50% 50% chance to be inherited Patient Risk x8 50% Result: IF the grandmother has a gene variation, the probability that the patient has inherited it is 25% 75% of all women who receive no hormones have no genetic risk

THROMBOSIS Recommendations for women nowadays Hormones? Family history? Thrombosis case Everything OK UP TO 75% FALSE! UP TO ?% FALSE!

THROMBOSIS Recommendations for women nowadays Hormones? Family history? Predisposition Everything OK Genetic test! Correct! Correct!

THROMBOSIS The thrombosis risk genes

THROMBOSIS The thrombosis risk genes

THROMBOSIS The thrombosis risk genes

THROMBOSIS The thrombosis risk genes

THROMBOSIS Counselling example Prevention Long flights/sitting > stand up, move Heparin injections as precaution measures Support stockings Regular exercises Do not smoke! Drink plenty of fluids Aspirin and clopidogrel have a preventive effect Women: No hormonal preparations! Heparin treatment during pregnancy

PHARMACOGENETICS Various drugs and enzymes DRUG D 3A42C192E9 3A5 NAT2 DRUG C 2D6 DRUG B 2C9 DRUG A 1A2 break down

End of the chapter Thrombosis, hormones and pregnancy (Thrombo Sensor) 37