Combined hyperlipidemia, also called familial combined hyperlipidemia, is a metabolic disease. It is hereditary and characterized by dyslipidemia in multiple members of the same family.
Presentation
Combined hyperlipidemia (CH) is a common, familial lipid disorder that causes a deranged lipid profile in affected individuals, and there is often a family history of cardiovascular disease or high cholesterol. CH has variable phenotypes, which are thought to be a result of genetic heterogeneity. The prevalence of CH is about 6% in the general population and over double that value among patients with familial coronary heart disease [1]. The suggested disease process is that there is a surplus production of low density lipoprotein (LDL) and very low density lipoprotein (VLDL) by the liver, which contain apolipoprotein B100 (apoB100) [2]. A grading system is in place, by which CH can be categorized into several subtypes depending on the prominent feature of a particular phenotype [3].
It is a very common condition in those with a preexisting cardiovascular disease, such as patients with a history of myocardial infarction. Although patients with CH may be diagnosed in the second or third decade of life, dyslipidemia may be present from birth but may remain asymptomatic in early life. Symptoms usually present later in life, and the prognosis is linked to the age of diagnosis and treatment initiation.
Patients present with signs of vascular compromise, such as angina, chronic ulcers, and intermittent claudication. Complications of CH mostly involve the cardiovascular system and comprise of conditions such as stroke. Furthermore, as it is a metabolic disorder, it is often associated with other metabolic diseases, such as nonalcoholic steatohepatitis (NASH), and glucose intolerance [4] [5]. Individuals with CH may also have metabolic syndrome as comorbidity. They also have a higher prevalence of obesity, diabetes, and coronary artery disease, compared to the general population.
Workup
The diagnosis of combined hyperlipidemia is made by evaluation of the lipid profile, that is, serum triglyceride and cholesterol levels. Typically, there are elevated levels of triglycerides, LDL, VLDL, and apoB100. There may also be a decrease in HDL (high density lipoprotein) cholesterol [6]. Genetic testing may be done.
The parameters that best describe CH are not well defined, as different criteria yield different diagnoses [7] [8]. The proposed diagnostic criteria are: hyperlipidemia observed in several consecutive tests in the patient, as well as in a relative [9].
Diagnosis is made even more challenging by the relatively normal lipid levels exhibited by a number of patients; these are correlated to certain factors, such as body weight, and may remain low until the associated factors change [10]. Waist to hip ratio can be a useful tool in diagnosing CH. Other conditions to test for include diabetes and coronary artery disease. The identification of CH in children is complicated, as there is no correlation between lipid levels measured before the age of 12, and the development of CH in adult life.
Treatment
Treatment for combined hyperlipidemia focuses on reducing lipid levels to lower the risk of cardiovascular complications. Lifestyle modifications, such as adopting a heart-healthy diet, increasing physical activity, and losing weight, are crucial first steps. Medications, including statins, fibrates, and niacin, may be prescribed to help manage cholesterol and triglyceride levels. Regular monitoring of lipid levels and adherence to treatment plans are essential for effective management.
Prognosis
The prognosis for individuals with combined hyperlipidemia varies depending on the severity of the condition and the effectiveness of treatment. With appropriate lifestyle changes and medication, many patients can achieve significant improvements in their lipid profiles and reduce their risk of cardiovascular events. However, untreated or poorly managed combined hyperlipidemia can lead to serious complications, including heart disease and stroke.
Etiology
Combined hyperlipidemia can be caused by genetic factors, lifestyle choices, or a combination of both. Familial combined hyperlipidemia is an inherited form of the disorder, often passed down through families. Acquired forms may result from poor dietary habits, lack of exercise, obesity, and other health conditions such as diabetes or hypothyroidism. Certain medications can also contribute to elevated lipid levels.
Epidemiology
Combined hyperlipidemia is one of the most common lipid disorders worldwide, affecting millions of people. It is more prevalent in adults, particularly those with a family history of the condition or other risk factors such as obesity and sedentary lifestyles. The prevalence of combined hyperlipidemia is increasing due to rising rates of obesity and unhealthy dietary patterns.
Pathophysiology
The pathophysiology of combined hyperlipidemia involves complex interactions between genetic and environmental factors that lead to dysregulation of lipid metabolism. This results in elevated levels of cholesterol and triglycerides in the blood. The accumulation of these lipids in the arterial walls contributes to the development of atherosclerosis, a condition characterized by the hardening and narrowing of the arteries, which increases the risk of cardiovascular diseases.
Prevention
Preventing combined hyperlipidemia involves adopting a healthy lifestyle to maintain optimal lipid levels. This includes eating a balanced diet rich in fruits, vegetables, whole grains, and lean proteins while limiting saturated fats, trans fats, and sugars. Regular physical activity, maintaining a healthy weight, and avoiding smoking and excessive alcohol consumption are also important preventive measures. Regular health check-ups can help detect lipid abnormalities early.
Summary
Combined hyperlipidemia is a prevalent lipid disorder characterized by elevated cholesterol and triglyceride levels, increasing the risk of cardiovascular diseases. It can be inherited or acquired through lifestyle factors. Diagnosis involves blood tests to assess lipid levels, and treatment focuses on lifestyle changes and medications to manage lipid levels. Prevention through healthy lifestyle choices is key to reducing the risk of developing this condition.
Patient Information
If you have been diagnosed with combined hyperlipidemia, it's important to understand that this condition can be managed effectively with the right approach. Focus on making healthy lifestyle changes, such as eating a balanced diet, exercising regularly, and maintaining a healthy weight. Your doctor may also prescribe medications to help control your lipid levels. Regular follow-ups and blood tests are essential to monitor your progress and adjust your treatment plan as needed. Remember, managing combined hyperlipidemia is a lifelong commitment to reducing your risk of heart disease and improving your overall health.
References
- Wiesbauer F, Blessberger H, Azar D, et al. Familial-combined hyperlipidaemia in very young myocardial infarction survivors (< or =40 years of age). Eur Heart J. 2009;30(9):1073-1079.
- Venkatesan S, Cullen P, Pacy P, Halliday D, Scott J. Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia. Arterioscler Thromb. 1993;13(7):1110-1118.
- Pihlajamäki J1, Karjalainen L, Karhapää P, Vauhkonen I, Laakso M. Impaired free fatty acid suppression during hyperinsulinemia is a characteristic finding in familial combined hyperlipidemia, but insulin resistance is observed only in hypertriglyceridemic patients. Arterioscler Thromb Vasc Biol. 2000;20(1):164-170.
- Sniderman AD, Castro Cabezas M, Ribalta J, et al. A proposal to redefine familial combined hyperlipidaemia -- third workshop on FCHL held in Barcelona from 3 to 5 May 2001, during the scientific sessions of the European Society for Clinical Investigation. Eur J Clin Invest. 2002;32(2):71-73.
- Sveger T, Nordborg K. Apolipoprotein B as a marker of familial hyperlipoproteinemia. J Atheroscler Thromb. 2004;11(5):286-292.
- Hokanson JE, Austin MA, Zambon A, Brunzell JD. Plasma triglyceride and LDL heterogeneity in familial combined hyperlipidemia. Arterioscler Thromb. 1993;13(3):427-434.
- Aguilar Salinas CA, Zamora M, Gómez-Díaz RA, Mehta R, Gómez Pérez FJ, Rull JA. Review Familial combined hyperlipidemia: controversial aspects of its diagnosis and pathogenesis. Semin Vasc Med. 2004;4(2):203-209.
- del Rincon Jarero JP, Aguilar-Salinas CA, Guillén-Pineda LE, Gómez-Pérez FJ, Rull JA. Lack of agreement between the plasma lipid-based criteria and apoprotein B for the diagnosis of familial combined hyperlipidemia in members of familial combined hyperlipidemia kindreds. Metabolism. 2002;51(2):218-224.
- Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001;285(19):2486-2497.
- Koprovicová J, Kollár J, Petrásová D. Nutrition, body weight and deterioration of familial combined hyperlipidemia. Coll Antropol. 2006;30(4):777-782.