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.

Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.


Total: 3

                       


(per page)
PMID (PMCID)
29055934
 MALE Young Adult
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
Bazerbachi F, Conboy EE, Mounajjed T, Watt KD, Babovic-Vuksanovic D, Patel SB, Kamath PS.
Ann Hepatol. 2017;16(6):970-978.
We propose that sitosterolemia should be included in the differential diagnosis for patients with cryptogenic cirrhosis, especially as there are effective oral therapies to treat this condition.
29055934
 MALE Young Adult
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
Bazerbachi F, Conboy EE, Mounajjed T, Watt KD, Babovic-Vuksanovic D, Patel SB, Kamath PS.
Ann Hepatol. 2017;16(6):970-978.
We describe a fatal case of a 21-year old South Asian male who presented with decompensated cirrhosis, and biochemical abnormalities consistent with sitosterolemia.
16472606
 MIXED_SAMPLE Adult
Liver transplantation in a patient with sitosterolemia and cirrhosis.
Miettinen TA, Klett EL, Gylling H, Isoniemi H, Patel SB.
Gastroenterology. 2006;130(2):542-7.
Liver transplantation in a patient with sitosterolemia and cirrhosis.