Lipodystrophies and Dyslipidemias

Garg, Abhimanyu

doi:10.1007/978-1-60761-424-1_16

Cited by 1 publication

(2 citation statements)

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“…Moreover, the results of our study contradict previously reported low prevalence rates of <1/1,000,000~5,000,000 [ 8 , 9 ], as shown by a very high percentage (6.4%) of hypercholesterolemic children with increased sitosterol levels, in addition to 2 hypercholesterolemic patients (0.9%) being diagnosed with sitosterolemia via genetic confirmation, with one further patient also highly suspected of the disease but unavailable for molecular testing. A recent study by Brinton et al also showed comparable results in patients with increased low-density lipoprotein cholesterol (LDL-C) concentrations (≥4.92 mmol/L [= 190 mg/dL]), with 4% of patients having sitosterol levels above the 99 th percentile and 0.3% having sitosterol levels consistent with sitosterolemia [ 14 ].…”

Section: Discussioncontrasting

confidence: 99%

“…Although an absolute consensus has yet to be reached, the prevalence of sitosterolemia has been reported to be as low as <1/1,000,000~5,000,000 [ 8 , 9 ]. This perceived low prevalence, along with heterogeneous clinical presentations overlapping with familial hypercholesterolemia, in conjunction with the inability of conventional cholesterol assays to discriminate phytosterols from cholesterol all contribute to the difficulty of accurately diagnosing sitosterolemia.…”

Section: Introductionmentioning

confidence: 99%

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High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence

et al. 2020

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Background Sitosterolemia is an inherited lipid disorder which presents with elevated serum sitosterol and can result in an increased risk of premature cardiovascular disease. However, sitosterol cannot be accurately measured by routine diagnostic assays, meaning that sitosterolemia diagnosis can often be difficult, especially with many clinical features overlapping with familial hypercholesterolemia. With such complications resulting in increasing reports of misdiagnosis, the prevalence of sitosterolemia is predicted to be much higher than previously reported. Methods Gas chromatography-mass spectrometry was utilized to measure sitosterol levels of normocholesterolemic and hypercholesterolemic children. Subsequently, an epidemiologically determined cutoff level of sitosterol was calculated and applied to estimate the prevalence of children with increased sitosterol and identify potential sitosterolemia patients. Massively parallel sequencing was used to confirm the diagnosis in suspected patients. Results Samples from 109 normocholesterolemic and 220 hypercholesterolemic were tested for phytosterols. Sitosterol and campesterol levels were significantly increased in hypercholesterolemic children (mean 22.0±45.9 μmol/L for sitosterol and 26.0±32.8 μmol/L for campesterol) compared to normocholesterolemic children (mean 12.1±4.9 μmol/L for sistosterol and 14.8±6.7 μmol/L for campesterol). Via application of a cutoff of 35.9 μmol/L, the prevalence rates for increased and overtly increased sitosterol in hypercholesterolemic children were 6.4% and 1.4% respectively. Furthermore, 3 suspected sitosterolemia patients were identified, with 2 patients receiving molecular confirmation for sitosterolemia diagnosis. Conclusions Our findings reaffirm that the prevalence of sitosterolemia is probably much higher than previously reported, which also indicates the significant risk of misdiagnosis of sitosterolemia with familial hypercholesterolemia. Special lipid testing including sitosterol, especially in children with uncontrolled hypercholesterolemia, is recommended in children in order to identify potential sitosterolemia patients that would otherwise be neglected.

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Section: Discussioncontrasting

confidence: 99%

Section: Introductionmentioning

confidence: 99%