genetic conditions

Question 1

antipholipid syndrome what it is? labs?

Answer 1

body forms ab against anticoagulant proteins s protein C, causing a hypercoagulable state
- recurrent miscarriages
- labs: increased aptt, thrombocytopenia,
- false positive on VDRL or RPR ( syphillis)

Question 2

von Willebrand disease

Answer 2

• deficiency in von Willebrand factor impairs platelet adhesion, hemostasis–> prolonged bleeding

symptoms: heavy regular menses, normal coagulation studiers

V for vampire—that wants you to bleed more , so prolonged bleeding

Question 3

inherited factor VII deficiency

Answer 3

x-linked recessive disorder more common in males

Signs: spontaneous hemarthrosis, intramuscular hematoma GI or GU bleeding

Question 4

factor V leiden mutation

Answer 4

factor 5 becomes resistant to protein C inactivation causing a hypercoagulable state

F for Fatty– so hypercoaguable

Question 5

OB climplcations with SLE

Answer 5

passive placental transfer of maternal anti-SSA and anti SSB antibodies

• AB attack fetal cardiac cell causing irreversible damage to the AV node, causing fetal AV fetal bloc,
• ## presents as fetal bradycardia on fetal heart tracing, causing hydrops fetalis and decreased fetal movement