286b inherited bleeding disorders

Question 1

hemophilia - inheritance? types and factor deficiency? labs? symptoms?

Answer 1

x-linked

A- F VIII
B- F IX

normal PT, high PTT

symptoms - hemarthrosis, easy bruising

Question 2

hereditary hemorrhagic telangiectasia

Answer 2

osler-weber-rendu

ALK1/endoglin gene –> TGF-B

abnormal vascular wall/AVM –> bleeding in mouth, nose, GI tract

lips, mouth, nose, GI tract – small dots, bleeding

no Rx

Question 3

hemangiomas

Answer 3

big purple thing on skin, can occur in CNS, intestine

blood vessels

Question 4

what factor % below normal is severe anemia?

Answer 4

<1% normal level

Question 5

factor XI deficiency

Answer 5

autosomal inheritance

mild bleeding - mucous sites

low XI –> less thrombin, less TAFI due to feedback from thrombin

Question 6

factor XIII deficiency

Answer 6

cross links fibrin - weaker clot

not measured in PT/PTT