A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia.
Clin Chim Acta
; 529: 61-66, 2022 Apr 01.
Article
in En
| MEDLINE
| ID: mdl-35167844
ABSTRACT
BACKGROUND:
Sitosterolemia, also known as phytosterolemia, results from increased intestinal absorption of plant sterols and decreased intestinal and biliary excretion of sterols, resulting in increased levels of plant sterols in the plasma. The most common symptoms include xanthomas, premature atherosclerosis, hemolytic anemia and macrothrombocytopenia, however delayed diagnosis or misdiagnosis also occur. PATIENT ANDMETHODS:
Clinical exome sequencing was performed on a 10-year-old boy whom we followed up with signs of pancytopenia accompanied by macrothrombocytopenia and stomatocytosis. In addition, the blood sterol levels of the patient and his family were studied.RESULTS:
A novel homozygous c.904 + 5G > C intronic variant was detected in ABCG5 gene in index case. The mother and father were identified as carriers. The blood plant sterol levels of the patient and his family were studied, and the levels in the patient confirmed Sitosterolemia. Sitosterol levels decreased dramatically with restricted diet and ezetimibe treatment.CONCLUSION:
In children, signs of Sitosterolemia may be subtle and the only symptom may be hematological. Therefore, Sitosterolemia should be kept in mind in children with stomatocytosis and macrothrombocytopenia.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pancytopenia
/
Phytosterols
/
Hypercholesterolemia
/
Intestinal Diseases
/
Lipid Metabolism, Inborn Errors
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adolescent
/
Child
/
Humans
/
Male
Language:
En
Journal:
Clin Chim Acta
Year:
2022
Document type:
Article