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Familial Combined Hyperlipidaemia

A common hereditary dyslipidaemia with elevated LDL and triglycerides.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Familial Combined Hyperlipidaemia?

Familial combined hyperlipidaemia (FCHL) is one of the most common genetic dyslipidaemias, characterised by high LDL cholesterol, high triglycerides and usually low HDL levels. It affects 1-2% of the population and is responsible for a significant proportion of early coronary artery disease cases.

Pathogenesis involves overproduction of apolipoprotein B-containing lipoproteins (VLDL) by the liver. It exhibits multifactorial inheritance and different family members may show varying lipid phenotypes (hypercholesterolaemia, hypertriglyceridaemia or combined).

In diagnosis, the presence of different lipid abnormalities in multiple family members, high apoB level and history of early CAD are important. Differentiation from familial hypercholesterolaemia is critical because the treatment approach differs.

Symptoms

Usually asymptomatic
Lipid elevation in adulthood
Sparse physical findings
Xanthelasma rarely
Early coronary artery disease (<55 years male, <65 female)
Family history of cardiovascular events
Components of metabolic syndrome
Insulin resistance and tendency to type 2 diabetes

Risk Factors

Family history of early cardiovascular disease
Genetic predisposition
Obesity and sedentary lifestyle
Metabolic syndrome
Insulin resistance
Poor dietary habits
Smoking and alcohol
History of type 2 diabetes

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Multiple abnormalities on lipid panel
  • Family history of early coronary disease
  • Detection of dyslipidaemia on routine screening
  • Findings of metabolic syndrome
  • Cardiovascular risk factors at a young age
  • History of pancreatitis (very high TG)

Treatment Methods

01
Lifestyle and dietary changes
02
Statin therapy (LDL target)
03
Fibrate or omega-3 (high TG)
04
Ezetimibe (combination therapy)
05
PCSK9 inhibitors (in resistant cases)
06
Cardiovascular risk factor management
07
Family screening
08
Long-term cardiology and endocrinology follow-up

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.