Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?

Abstract

Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of phytosterols and their accumulation in blood and tissues. Clinically, it can present with hypercholesterolemia and xanthomas, often causing it to be misdiagnosed as familial hypercholesterolemia (FH). The diagnosis of sitosterolemia can easily be confirmed and distinguished from FH with a sterol profile and genetic investigations. Here, we report a sibship of 2 sisters with sitosterolemia initially misdiagnosed as FH. This case report illustrates the importance of considering rare conditions, such as sitosterolemia, as a differential diagnosis in patients with hypercholesterolemia, xanthomas, and hematologic anomalies. It also emphasizes the underdiagnosis of sitosterolemia and the benefits of using sterol profiles and genetic testing in the diagnostic process to initiate the appropriate therapy and avoid harm to patients.

Keywords: ABCG5; ezetimibe; macrothrombocytopenia; phytosterol; sitosterolemia.

Figure 1.

Cholesterol concentration, platelet count, and mean platelet volume according to treatment. This figure shows the cholesterol concentrations, platelet count, and mean platelet volume over time according to treatment in patient 1 (panels A-C) and patient 2 (panels D-F). HDL-C, high-density lipoprotein cholesterol; LDL-C, low-density lipoprotein cholesterol; Prava, pravastatin; Rosuva, rosuvastatin.