Specific medications and dietary modifications could effectively treat hyperlipidemia in patients with long chain fatty acid oxidation disorder (LCFAOD), according to a case study recently published in the Journal of the Endocrine Society.
“We present a case of [carnitine palmitoyltransferase II (CPT II) deficiency] and significant hyperlipidemia successfully managed with pitavastatin and ezetimibe, which helped to achieve a desirable [low-density lipoprotein cholesterol (LDL-C)],” the authors wrote.
This case report described a 70-year-old man previously diagnosed with CPT II deficiency, a form of LCFAOD (specifically, the myopathic subtype), at 30 years of age.
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The patient also had a history of multiple metabolic, cardiovascular, and endocrine comorbidities, including hyperlipidemia with marked hypertriglyceridemia, along with type 2 diabetes, hypertension, atrial fibrillation, carotid artery stenosis, and recurrent pancreatitis.
His main symptom was severe myalgia, for which he received a higher intake of carbohydrates in his diet. He tried using lipid-lowering drugs such as statins and fibrates but eventually withdrew due to worsening myalgia and elevated creatinine phosphokinase (CPK) levels.
His healthcare providers later initiated ezetimibe at a dose of 10 mg daily and 2000 mg of fish oil twice a day. However, the patient’s LDL-C levels kept increasing, reaching 132 mg/dL and scoring 39% in the atherosclerotic cardiovascular disease (ASCVD) risk assessment.
Despite the patient’s previous history with statins, the benefits of this approach outweighed the risks and he started pitavastatin at a dose of 2 mg twice a week, along with the previously indicated ezetimibe at the same dose.
At the 8-week follow-up, the LDL-C and triglyceride plasma levels had markedly decreased to 94 mg/dL and 307 mg/dL, respectively. Given the therapeutic success and the absence of myalgia at this point, the pitavastatin scheme was modified to 3 doses per week.
Subsequent gradual increases continued until a regimen of 2 mg daily was achieved. The patient’s LDL-C levels further decreased to 66 mg/dL while remaining asymptomatic and maintaining normal CPK levels.
“Pitavastatin is not metabolized by hepatic CYP3A4 isoenzyme as other statins and is minimally metabolized by CYP2C9,” the authors noted as a potential explanation for their success.
Furthermore, they explained that avoiding diets high in fat as well as episodes of high exertion are fundamental components of the management of patients with this type of LCFAOD.
Anbari RA, Ghayee H, Xhikola M, Kadiyala S. PSUN63 Approach to hyperlipidemia management in carnitine palmitoyltransferase II deficiency. J Endocr Soc. Published online November 1, 2022. doi:10.1210/jendso/bvac150.528