Which is the most common FVIII mutation in patients with a severe ...

[Alainaaa8]

Which is the most common FVIII mutation in patients with a severe phenotype (occurring in almost 50 of patients)?
 
  a. Gross deletion of entire gene locus
  b. Point mutation involving the thrombin cleavage site
  c. Inversion mutation of intron 22
  d. Point mutation involving the site of VWF attachment

Question 2

Explain how liver disease can be differentiated from DIC through laboratory test analysis.
 
  What will be an ideal response?

[Natalie4ever]

Answer to Question 1

Correct Answer: C

Answer to Question 2

Answer: Liver disease has a significant impact on coagulation because several coagulation factors are synthesized in the liver. The result is a decreased level of coagulation proteins synthesized in the liver, whereas in DIC, all proteins decrease. Liver dysfunction also leads to procoagulant dysfunction and platelet sequestration. Protein dysfunction, especially fibrinogen, is associated with normal levels of proteins but is aberrantly dysfunctional. In addition, fibrinogen is an acute phase reactant and increases in inflammatory conditions. This can provide a differential diagnosis between liver disease and DIC because fibrinogen in DIC is consumed, but in liver disease, it often increases. Liver enzymes, in general, identify liver dysfunction as a whole, thus inferring that liver disease causes issues with coagulation proteins. DIC has excessive fibrinolysis in response to the excessive fibrin formed, which can cause the production of measurable D-dimers in a patient sample. In liver disease, fibrinolysis is normal.

[Alainaaa8]

Excellent

[amcvicar]

Thanks for the timely response, appreciate it