Sitosterolemia

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5<i> (2p21) and <i>ABCG8</i> (2p21) genes.

Hyperapobetalipoproteinemia

Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.


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PMID (PMCID)
3731582
 FEMALE Adult
Tendon xanthomas associated with cholestanolosis and hyperapobetalipoproteinemia.
Lussier-Cacan S, Cantin M, Roy CC, Sniderman AD, Nestruck AC, Davignon J.
Clin Invest Med. 1986;9(2):94-9.
Hyperapobetalipoproteinemia has been reported before in association with sitosterolemia but not with cholestanolosis.