Interesting Diseases

Question 1

Kasabach-Merritt

Answer 1

Acquired TMA caused by entrapment in vascular tumors (eg hemangioendothelioima). Usually observed in infants.

Question 2

Scott syndrome

Answer 2

Autosomal recessive defect in phosphatidylserine flipping. Cause unknown.

Question 3

Upshaw-Schulman

Answer 3

Inherited TTP due to congenital deficiency of ADAMTS13.

Question 4

Congenital fibrinogen deficiency

Answer 4

Results from many possible mutations in A/B/y subunits. Can present with bleeding or venous thrombosis (due to increased thrombin activity).

Question 5

Fibrinogen storage disease

Answer 5

A subset of congenital fibrinogen deficiency, characterized by hepatic fibrosis.

Question 6

Chronic granulomatous disease

Answer 6

Congenital abnormality of NADPH oxidase and ROS production by neutrophils. X-linked, associated with Kx deletion. Do not treat with chronic granulocytes (high risk of alloimmunization).