Sitosterolemia may present with a number of clinical and laboratory findngs.
|
Gene
|
ABCG5
|
ABCG8
|
|
Chromosome
|
2p21
|
2p21
|
|
Protein
|
sterolin-1
|
sterolin-2
|
Inheritance: autosomal recessive
(1) xanthomas which may appear during childhood
(1a) tendinous or tuberous on extensor surfaces (knees, elbows) and buttocks
(1b) planar near the Achilles tendon and heel
(1c) interriginous
(2) premature coronary artery disease and arteriosclerosis with sudden death
(3) aortic valve disease
(4) abnormal bleeding
(5) arthritis and/or arthralgia
(6) splenomegaly
Laboratory findings:
(1) hypercholesterolemia
(2) hemolytic anemia
(3) stomatocytosis
(4) macrothrombocytopenia
