What are the primary dyslipidemias (disorders of lipid metabolism)?

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From the Guidelines

Primary dyslipidemias include familial hypercholesterolemia, familial combined hyperlipidemia, familial hypertriglyceridemia, dysbetalipoproteinemia, and familial hypoalphalipoproteinemia, which are characterized by distinct lipid and lipoprotein abnormalities. These disorders are associated with increased risk of cardiovascular disease and may require aggressive treatment, including medications such as statins, ezetimibe, and PCSK9 inhibitors, as well as lifestyle modifications and regular monitoring of lipid profiles 1. The primary lipid disorders can be categorized based on the lipid and lipoprotein abnormalities, including:

  • Familial hypercholesterolemia, which is characterized by elevated LDL cholesterol due to defects in LDL receptors
  • Familial combined hyperlipidemia, which presents with elevated LDL and triglycerides
  • Familial hypertriglyceridemia, featuring increased triglyceride levels
  • Dysbetalipoproteinemia, with elevated remnant lipoproteins
  • Familial hypoalphalipoproteinemia, marked by low HDL cholesterol levels 1. Early diagnosis and treatment of these disorders are crucial to reduce the risk of cardiovascular disease and improve quality of life, with treatment options including bile acid–binding sequestrants, statins, and cholesterol absorption inhibitors, which may be used in combination to achieve optimal lipid profiles 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 initial treatment for dyslipidemia is dietary therapy specific for the type of lipoprotein abnormality.

The primary dyslipidemias are:

  • Primary Hypercholesterolemia
  • Mixed Dyslipidemia
  • Severe Hypertriglyceridemia 2

From the Research

Primary Dyslipidemias

The primary dyslipidemias include:

  • Familial combined hyperlipidemia (FCHL) 3, 4, 5, 6
  • Familial hypercholesterolemia (FH) 6, 7
  • Elevated lipoprotein(a) (Lp[a]) 6

Characteristics of Primary Dyslipidemias

  • FCHL is characterized by elevated triglycerides and apolipoprotein B, with at least two affected family members 3
  • FCHL can present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B 5
  • FH is characterized by abnormally elevated serum levels of low-density lipoprotein (LDL) cholesterol from birth, which can lead to cardiovascular disease (CVD) 7
  • Elevated Lp(a) is considered to be a risk factor for premature coronary artery disease (CAD) 6

Prevalence of Primary Dyslipidemias

  • FCHL is the most prevalent primary dyslipidemia 5
  • FH affects approximately 9.1% of patients with premature CAD 6
  • Elevated Lp(a) affects approximately 19.4% of patients with premature CAD 6

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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