INHERITED THROMBOPHILIA

Q. A 27-year-old man develops a deep venous thrombosis in his left lower leg after a 4-hour car ride. His father had a thrombosis in a mesenteric vein 1 yr back, and his mother has had repeated superficial venous thromboses. Which of the following disorders does this patent most likely have?
(A) Factor V Leiden thrombophilia
(B) Familial hypercholesterolemia
(C) Fanconi’s anemia
(D) von Hippel-Lindau disease
(E) von Willebrand’s deficiency

Ans: B.

This patient has factor V Leiden thrombophilia, an inherited condition that predisposes patients to thromboses, especially those in unusual locations (eg., the mesenteric veins), and repeated thrombotic events (superficial and/or deep). Many patientshave their first thrombotic event at <50 years old. Heterozygous patients have a slightly increased risk of thrombotic events, while homozygous individuals are at a significantly increased risk.

Answer B is incorrect. Familial hypercholesterolemia leads to increased levels of low-density lipoprotein cholesterol, thereby increasing the risk of atherosclerosis, myocardial infarction, and stroke.

Answer C is incorrect. People with Fanconi’s anemia have a pancytopenia that causes increased incidence of infections, anemia, fatigue, and bleeding.

Answer D is incorrect. von Hippel-Lindau disease is characterized by abnormal blood vessel growth leading to angiomas and hemangioblastomas in the retina, brain, and spinal cord as well as in other regions of the body.

Answer E is incorrect. von Willebrand’s deficiency causes a prolonged bleeding time, which manifests as increased bleeding after trauma or surgery, nosebleeds, and hematomas.