Sitosterolemia shares clinical and biochemical features with homozygous familial hypercholesterolemia. Nevertheless, it is impressively responsive to cholesterol-lowering diet. In our report, we demonstrate a rapid reduction of severe hypercholesterolemia in response to dietary restriction in a young patient leading to the diagnosis of this rare disease. Early identification and treatment may prevent premature atherosclerosis.
Hypercholesterolemia in Childhood: How the Response to Diet could Lead to Diagnosis. Lesson from a Case-Report / Bruzzi, Patrizia; Predieri, Barbara; Madeo, Simona Filomena; Rabacchi, Claudio; Tarugi, Patrizia Maria; Calandra, Sebastiano; Iughetti, Lorenzo. - In: HORMONE RESEARCH IN PAEDIATRICS. - ISSN 1663-2818. - STAMPA. - 86:suppl 1(2016), pp. 318-318. (Intervento presentato al convegno 55th Annual Meeting of the European Society for Paediatric Endocrinology tenutosi a Paris).