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Therefore, there was no need to reduce the lomitapide dose. Of note, on initiation of therapy our patient was strictly adherent to the extremely low fat diet required to prevent steatorrhea and other gastrointestinal side effects associated with lomitapide. However, more recently he has found this diet to be somewhat restrictive, which has made long term compliance challenging.
The patient is a 64-year-old female with a history of familial hypercholesterolemia, hypertension, and a family history of premature atherosclerotic cardiovascular disease. She has a coronary artery bypass surgery in 1982 at the age of 32 and a repeat procedure in 1992. Her most recent cardiac catheterization in 2002 showed proximal, high-grade stenosis in all of her native vessels and occlusion of all of her venous grafts.
Her current medications include aspirin 81 mg daily, Ezetimibe 10mg daily, Rosuvastatin 20 mg daily, Atenolol 50 mg daily, and Felodipine 5 mg daily. She was unable to tolerate higher doses of Rosuvastatin due to myalgias.
She is divorced without children and her father died of a myocardial infarction at 32 years of age.
At this time, she is asymptomatic and able to complete all of her activities of daily living. She has a Body Mass Index of 30 and does not have a history of xanthelasmas or tendon xanthomas. The remainder of her physical examination was unremarkable.
Prior to initiation of lipid lowering medication her LDL-C was 445 mg/dL. She was referred to the lipid
clinic for help in the management
of hypercholesterolemia. In
and Rosuvastatin. Her LDL decreased from 175 mg/dL to 88 mg/dL, a reduction of 49.71 percent (Figure 3).
At the initiation of therapy her AST and ALT were normal. These have slowly risen over the course of treatment to a peak of AST 40 mg/dL and ALT 70 mg/dL on her most recent hepatic function tests on September 8, 2014 (Figure 4). Ultimately, the mipomersen
DISCUSSION
Despite recommendations from the National Lipid Association (NLA) Expert Panel on Familial Hypercholesterolemia and the American Academy of Pediatrics to screen all children for FH with a fasting lipid panel, only a fraction are being appropriately screened and treated.2 Any child (<20 years of age) with fasting be suspected of having FH.1 Ideally all children with a family history of FH or premature CAD should begin screening at 2 years of age and the rest of the population should be screened by age 20 (preferably between ages 9 and 11).2 The diagnosis of FH is then made based on a combination of family history, physical laboratory data. In order to assist in making the diagnosis, several previously validated diagnostic criteria have been developed, which include the U.K. Simon-Broome Registry (UKSBF), the Dutch Lipid Clinic Network (DLCN), and the U.S. Make Early Diagnosis Prevent Early Death criteria.9 Genetic testing is one
of the components included in both the UKSBF and DLCN criteria; however, in the U.S. the diagnosis is generally made using clinical criteria alone. Following the diagnosis of FH within a family it is essential to conduct cascade screening, a process This method of screening is critical as it represents the most economical method of identifying and treating FH patients.10
minimizing cardiovascular risk factors and lowering cholesterol levels should be implemented. Current guidelines recommend an initial reduction in LDL-C by at least 50 percent.11 However, as cardiovascular risk and maximally tolerated cholesterol lowering medications, FH patients are unable to adequately control
their LDL-C levels and remain at substantially increased risk. The inability to achieve target LDL-C levels can be explained in part by an attenuated response to currently available lipid lowering medications, most notably statins. This is due to the
May 2014, Mipomersen 200mg weekly was added to Ezetimibe
FIGURE 2
Patient A – Hepatic
Function Profile on Lomitapide Therapy.
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Del Med J | August 2015 | Vol. 87 | No. 8
