Hyperlipidemia

Hyperlipidemia is a disorder of fat metabolism characterized by an increase in one or more lipid fractions in the blood, with triglycerides and cholesterol being the most common.

Hyperlipidemias can have a genetic origin, although these account for only 5% of the total cases (not analyzed here). The vast majority of cases are of complex origin and are often associated with another pathology or the use of certain medications, such as diabetes mellitus, hypothyroidism, nephrotic syndrome, or renal insufficiency, among others.

The factors that can contribute to the onset of hyperlipidemia are as follows:

  • Unhealthy diet, rich in saturated fats, sugars, and ultra-processed foods.
  • Obesity or overweight.
  • Lack of physical exercise.
  • Smoking.
  • Regular alcohol consumption.
  • Age, being much more common after the age of 40.

Symptoms

In most cases, hyperlipidemia does not produce any symptoms and requires a blood test for diagnosis. When triglyceride levels are exceptionally high, they can cause episodes of abdominal pain due to pancreatitis, enlargement of the liver and spleen, and fat eruptions on the skin called xanthomas.

It is important to note that persistently high levels of triglycerides and/or cholesterol are the main risk factor for developing atherosclerosis and vascular events.

Prevention

Leading a healthy lifestyle is the main way to reduce the risk of hyperlipidemia. Preventive measures include:

  • Following a low-salt diet and prioritizing the consumption of fruits and vegetables
  • Limiting the amount of animal fat
  • Maintaining a healthy weight
  • Exercising regularly
  • Avoiding tobacco and alcohol
  • Managing stress
  • If there is a diagnosis of an associated disease such as diabetes, it is important to maintain good control of it

Number of observed variants

13.5 million variants

Number of risk loci

44 loci

Genes analyzed

ABCA1 ABCA9 ABCG5 ABO ANGPTL3 APOB APOC1 APOE ASGR1 BUD13 CDKN2B FES GCKR HAVCR1 HMGCR HNF1A HPR KAT5 LDLR LPA LPL MAFB MAMSTR MYLIP N4BP2L1 ONECUT1 PCCB PCSK9 PPP1R3B PSRC1 SCARB1 SLC22A1 SLC22A3 SMAD7 TDRD15 TM6SF2 TOP1 TRIB1 UBXN2B UGT2B15 ZNF652

Bibliography

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