From the Guidelines
Primary dyslipidemias include familial hypercholesterolemia, familial combined hyperlipidemia, familial hypertriglyceridemia, familial dysbetalipoproteinemia, and hypoalphalipoproteinemia, which are characterized by abnormal levels of lipoproteins in the blood due to genetic mutations affecting lipoprotein production, clearance, or metabolism. These disorders can lead to premature cardiovascular disease if left untreated, emphasizing the importance of early diagnosis and treatment 1. The primary lipid disorders are:
- Familial hypercholesterolemia, with elevated LDL cholesterol
- Familial combined hyperlipidemia, with elevated LDL and triglycerides
- Familial hypertriglyceridemia, with increased triglyceride levels
- Familial dysbetalipoproteinemia, with elevated remnant lipoproteins
- Hypoalphalipoproteinemia, with low HDL cholesterol levels Treatment typically involves lifestyle modifications and medications such as statins, ezetimibe, PCSK9 inhibitors, or bile acid sequestrants, depending on the specific disorder and severity 1. It is essential to note that familial hypercholesterolemia is a significant concern, affecting about 1 in 250 people and substantially increasing cardiovascular risk. According to the 2016 ESC/EAS guidelines, LDL-Cholesterol (LDL-C) should be used as the primary lipid analysis for screening, risk estimation, diagnosis, and management, and a statin is the usual first-line treatment to reach the LDL-C goal 1.
From the FDA Drug Label
Fenofibrate tablets are indicated as adjunctive therapy to diet to reduce elevated low-density lipoprotein cholesterol (LDL-C), total cholesterol (Total-C), Triglycerides and apolipoprotein B (Apo B), and to increase high-density lipoprotein cholesterol (HDL-C) in adult patients with primary hypercholesterolemia or mixed dyslipidemia. The primary dyslipidemias are:
- Primary Hypercholesterolemia
- Mixed Dyslipidemia
- Severe Hypertriglyceridemia 2
From the Research
Primary Dyslipidemias
The primary dyslipidemias can be classified into several types, including:
- Hypercholesterolaemia: characterized by high levels of low-density lipoprotein cholesterol (LDL-C) in the blood 3
- Hypertriglyceridaemia: characterized by high levels of triglycerides in the blood 3
- Combined hypercholesterolaemia and hypertriglyceridaemia: characterized by high levels of both LDL-C and triglycerides in the blood 3
- Abnormal high-density lipoprotein-cholesterol (HDL-C) levels: characterized by low levels of HDL-C in the blood 3
Familial Combined Hyperlipidemia (FCHL)
FCHL is the most common genetic dyslipidemia, characterized by:
- Elevated triglycerides and apolipoprotein B levels 4
- Presence of at least two affected family members 4
- Increased risk of premature atherosclerosis and cardiovascular disease 5, 6, 4
- Often associated with other metabolic conditions, such as type 2 diabetes and non-alcoholic fatty liver disease 5
Other Primary Dyslipidemias
Other primary dyslipidemias include: