Card Set Information
what is HHT?
hereditary haemorrhagic telangectasia
genetics of HHT?
mutation in endothelial receptor for
what is TGF-beta?
what is the clinical picture of HHT?
small aneurysms: fingers, face, lungs, GI
PAVM -> arterial hypoxaemia
recurrent bleeds -> Fe deficiency anaemia
management of HHT?
laster therapy for GI bleeds
what is ehlers-danlos 4 disease?
vascular defect in collagen III
-> fragile endothelium and organ membranes
how common is ehlers danlos?
1/100 000 rare
what is scurvy?
vit C deficiency
what are the consequences of scurvy?
perifollicular and petechial haemorrhage
what is glanzmann's syndrome?
what cells affected
due to reduced membrane glycoproteins
treatment for glanzmann's syndrome?
name some antifibrinolytics?
what is ITP?
idiopathic thrombocytopenic purpura
what happens in ITP?
autoAbs vs PLT membrane glycoprotein IIb/IIIa
-> premature removal by reticulo-endothelial system
clinical effect of ITP?
sex more prone to getting ITP?
after 65yrs, what does ITP predispose to?
B cell malignancy
connective tissue disorder
when does a patient need treatment for ITP?
ie how low does the PLT count need to be...
why do you give pred for people with ITP who are spontaneously bleeding?
to stop antibody production
to reduce the activity of reticuloendothelial cells in removing the PLTs
haemophilia A lacks which factor?
haemophilia B lacks which factor?
what is the commonest cause of coagulation problems?
talk about factor VIII?
made by liver and endothelium
12hr half life
carried by vWF
one in how many people have haemophilia A
genetics of haemophilia?
can screen via CVS
why can female carriers of a recessive haemophilia gene have lower factor VIII/IX?
random inactivation of normal X (lyonisation)
what is the cause of secondary arthritis in haemophilia?
spontaneous bleeding into joints
management for haemophilia?
patient can keep factor VIII/IX at home in fridge in case of bleeding
DDAVP for VIII
why can DDAVP be used for treating haemophilia A?
because it increases the release of vWF
which means the limited factor VIII hangs around longer
what is the risk of factor VIII treatment for haemophilia A?
developing anti-factor VIII autoAbs
could then give activated factor VII
what kind of infections does a lack of factor VIII leave you prone to?
HIV, CMV, vCJD, HBV
which is more common:
haemophilia A or B?
what happens in von willebrand disease?
autosomal dominant chromosome 12 mutation
impaired vWF so less factor VIII available
so PLT can't bridge to the exposed collage in torn vessel wall
treatment for von willebrand disease?
transexamic acid for mucosal bleeding
infertility is linked to a problem with which clotting factor?
what clotting factors does the liver produce?
5, 7, 8, 9, 10, 11
how does liver disease affect clotting?
decreased plasminogen clearence
how does hypersplenism affect clotting?
how does cholestatic jaundice affect clotting factors?
it reduces vit K absorption
less factors 2, 7, 9, 10
how does kidney failure affect clotting?
increases risk of bleeding
prolonged bleeding time