What is Hypercholesterolemia?

Hypercholesterolemia or High cholesterol can be defined as a LDL-cholesterol greater than 190 mg/dL, greater than 160 mg/dL with one major risk factor, or greater than 130 mg/dL with two cardiovascular risk factors. The risk factors include-

• Age: male 45 years or older, female 55 years or older
• A positive family history of premature atherosclerotic cardiovascular disease (younger than 55 years in a male and younger than 65yrs in a female)
• Hypertension
• Diabetes
• Smoking
• Low HDL-cholesterol levels (less than 40 mg/dl in male and less than 55 mg/dl in a female).

Lipoproteins comprise lipids and protein and can be transported in plasma as such, for delivery of cholesterol, triglycerides, and fat-soluble vitamins to the respective organs when required. In hypercholesterolemia, the LDL receptor is either missing or there is a problem with its receptor due to which the proper uptake of cholesterol into the liver becomes difficult as the liver is involved in the circulation process of 2/3rd of LDL. Several mutations of the LDL receptor can cause this.

The disorder affects women more than men. Incident familial hypercholesterolemia (FH) is estimated at about 1/300 persons worldwide.

Causes

The cause of hypercholesterolemia can be acquired and genetic. The genetic disorder is called Familial Hypercholesterolemia that occurs due to loss-of-function- mutations in the gene coding for LDL receptors. It is an autosomal dominant disorder.

Sign and symptoms

Secondary underlying conditions like smoking, diabetes, dietary intake of total calories, saturated, and trans fats, physical activity, drug therapies, and symptoms of CV disease (angina pectoris, intermittent claudication, transient ischemic attacks) must be ruled out.

On physical examination, the physician must inspect for the features of hypothyroidism (bradycardia, dry skin, delayed reflexes) Nephrotic syndrome (oedema, ascites), cholestasis (jaundice, hepatomegaly). All the pulses must be palpated. In patients above 50 years of age, signs like tendon xanthoma (Achillesע tendon and extensor tendons on the dorsum of the hand), xanthelasma, and arcus senilis must be looked for.

Diagnosis

Lipid profile test consisting of total cholesterol, triglycerides, and HDL-cholesterol, and calculates the LDL-cholesterol must be recommended. Secondary causes can be excluded by doing the following tests: TSH (hypothyroidism), glucose (diabetes), urinalysis and serum albumin (nephrotic syndrome), and bilirubin and alkaline phosphatase (cholestasis).

Recommendations of screening are –

• Men older than 35
• Women older than 45
• Presence of diabetes
• Tobacco use
• Family history of cardiac disease
• Personal history of heart disease or peripheral vascular disease
• Obesity (BMI > 30)
• Hypertension

General management

The mainstay of the treatment is maintaining a healthy lifestyle, an optimum weight, smoking cessation and physical exercise for at least 150 minutes per week. A diet low in saturated and trans-fatty acids and enriched in fibre, fruit, vegetables and fatty fish must be advised. Necessary pharmacological therapy must be given by the physicians.

Warning: Above information provided is an overview of the disease, we strongly recommend a doctor’s consultation to prevent further advancement of disease and/or development of complications.

Disclaimer: The information provided herein on request, is not to be taken as a replacement for medical advice or diagnosis or treatment of any medical condition. DO NOT SELF MEDICATE. PLEASE CONSULT YOUR PHYSICIAN FOR PROPER DIAGNOSIS AND PRESCRIPTION.