Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene
-
Hideaki Yagasaki
,
Takaya Nakane
Abstract
Background:
Sitosterolemia is a rare lipid metabolism disorder that involves storage of plant sterols. This disease is associated with atherosclerosis, but detailed vascular endothelial assessment is difficult.
Case presentation:
We report a 5-year-old girl with sitosterolemia who presented with xanthomas at 23 months of age. Her total cholesterol was 868 mg/dL, and her plasma sitosterol level was 9.48 mg/dL. Direct sequencing detected a homozygous mutation in gene ABCG5 (p.Arg389His). Echocardiographic examination revealed that the carotid artery intima media thickness (cIMT) was 0.4 mm with heterogenous hyperechogenicity inside the arterial wall. She was treated using dietary therapy and ezetimibe, which effectively lowered her sitosterol levels. After 3 years of treatment, her cIMT was stable in diameter and arterial wall echogenicity had improved.
Conclusions:
Sitosterolemia is a unique disorder in which it is difficult to avoid premature atherosclerosis because of high sitosterol levels. cIMT measurement with arterial wall assessment may improve management.
Author contributions: Hideaki Yagasaki wrote the first draft of this manuscript. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Conflict of interest: None declared.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab 2016;21:7–14.10.6065/apem.2016.21.1.7Search in Google Scholar PubMed PubMed Central
2. Othman RA, Myrie SB, Jones PJ. Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. Atherosclerosis 2013;231:291–9.10.1016/j.atherosclerosis.2013.09.038Search in Google Scholar PubMed
3. Wang J, Mitsche MA, Lutjohann D, Cohen JC, Xie XS, et al. Relative roles of ABCG5/ABCG8 in liver and intestine. J Lipid Res 2015;56:319–30.10.1194/jlr.M054544Search in Google Scholar PubMed PubMed Central
4. Dalla Pozza R, Ehringer-Schetitska D, Fritsch P, Jokinen E, Petropoulos A, et al. Intima media thickness measurement in children: a statement from the Association for European Paediatric Cardiology (AEPC) Working Group on Cardiovascular Prevention endorsed by the Association for European Paediatric Cardiology. Atherosclerosis 2015;238:380–7.10.1016/j.atherosclerosis.2014.12.029Search in Google Scholar PubMed
5. Tada H, Kawashiri MA, Okada H, Endo S, Toyoshima Y, et al. A rare coincidence of Sitosterolemia and Familial Mediterranean Fever identified by whole exome sequencing. J Atheroscler Thromb 2016;23:884–90.10.5551/jat.34827Search in Google Scholar PubMed PubMed Central
6. Park JH, Chung IH, Kim DH, Choi MH, Garg A, et al. Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. J Clin Endocrinol Metab 2014;99:1512–8.10.1210/jc.2013-3274Search in Google Scholar PubMed
7. Terminology and Diagnostic Criteria Committee. Standard method for ultrasound evaluation of carotid artery lesions. J Med Ultrason 2009;36:219–26.10.1007/s10396-009-0238-ySearch in Google Scholar PubMed
8. Othman RA, Myrie SB, Mymin D, Merkens LS, Roullet JB, et al. Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. J Pediatr 2015;166:125–31.10.1016/j.jpeds.2014.08.069Search in Google Scholar PubMed PubMed Central
9. Tsubakio-Yamamoto K, Nishida M, Nakagawa-Toyama Y, Masuda D, Ohama T, et al. Current therapy for patients with sitosterolemia–effect of ezetimibe on plant sterol metabolism. J Atheroscler Thromb 2010;17:891–900.10.5551/jat.4614Search in Google Scholar PubMed
10. Abd El Dayem SM, El Magd El Bohy A, Battah AA. Carotid intimal medial thickness and its relation to endothelial dysfunction and echocardiographic changes in adolescents with type 1 diabetes. J Pediatr Endocrinol Metab 2015;28:1029–37.10.1515/jpem-2014-0355Search in Google Scholar PubMed
11. Wu TH, Kuo HC, Tain YL, Lin KM, Chien SJ. Common carotid artery intima-media thickness is useful for diagnosis of the acute stage of Kawasaki disease. BMC Pediatr 2014;14:98.10.1186/1471-2431-14-98Search in Google Scholar PubMed PubMed Central
12. Gomez-Roig MD, Mazarico E, Valladares E, Guirado L, Fernandez-Arias M, et al. Aortic intima-media thickness and aortic diameter in small for gestational age and growth restricted fetuses. PLoS One 2015;10:e0126842.10.1371/journal.pone.0126842Search in Google Scholar PubMed PubMed Central
13. Dalla Pozza R, Bechtold S, Urschel S, Kozlik-Feldmann R, Netz H. Subclinical atherosclerosis, but normal autonomic function after Kawasaki disease. J Pediatr 2007;151:239–43.10.1016/j.jpeds.2007.03.057Search in Google Scholar PubMed
14. Litwin M, Wuhl E, Jourdan C, Trelewicz J, Niemirska A, et al. Altered morphologic properties of large arteries in children with chronic renal failure and after renal transplantation. J Am Soc Nephrol 2005;16:1494–500.10.1681/ASN.2004110932Search in Google Scholar PubMed
15. Ishizu T, Ishimitsu T, Yanagi H, Seo Y, Obara K, et al. Effect of age on carotid arterial intima-media thickness in childhood. Heart Vessels 2004;19:189–95.10.1007/s00380-004-0766-8Search in Google Scholar PubMed
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Articles in the same Issue
- Frontmatter
- Original Articles
- Standard body mass index reference data of prepubescent diabetic Egyptian children
- Frequency and risk factors of depression in type 1 diabetes in a developing country
- Association of obesity and health related quality of life in Iranian children and adolescents: the Weight Disorders Survey of the CASPIAN-IV study
- Association between urinary phthalates and metabolic abnormalities in obese Thai children and adolescents
- A pilot study of the effect of human breast milk on urinary metabolome analysis in infants
- Assessment of the correlation between the atherogenic index of plasma and cardiometabolic risk factors in children and adolescents: might it be superior to the TG/HDL-C ratio?
- Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Application of povidone-iodine at delivery significantly increases maternal urinary iodine but not neonatal thyrotropin in an area with iodine sufficiency
- Influence of topical iodine-containing antiseptics used during delivery on recall rate of congenital hypothyroidism screening program
- Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening
- Short Communication
- Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy
- Case Reports
- An occult ectopic parathyroid adenoma in a pediatric patient: a case report and management algorithm
- Fetal goitrous hypothyroidism treated by intra-amniotic levothyroxine administration: case report and review of the literature
- Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene
- Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism
