Hyperlipoproteinemia is a disorder of lipid metabolism that results in higher levels of circulating lipoproteins in the plasma.
Presentation
Hyperlipoproteinemia is usually asymptomatic and is more commonly seen in people who have a personal/family history of atherosclerosis and coronary artery disease or in patients who are obese, smokers, hypertensive, or diabetic [1] [2].
Triglyceride levels greater than 1000-2000 mg/dL may trigger the onset of abdominal symptoms such as epigastric pain due to acute pancreatitis. The pain may also originate in the chest or back. Chylomicronemia syndrome is characterized by recurrent episodes of abdominal pain accompanied by nausea, vomiting, and breathlessness [3]. Some patients have also reported episodes of memory loss and depression. This syndrome may be easily confused with an acute cardiac event or a biliary colic. Individuals with hyperlipoproteinemia may suffer from recurrent bouts of acute pancreatitis when triglyceride levels rise above 5000 mg/dL [4].
An accumulation of lipid-laden macrophages under the skin may result in lesions known as xanthomas. Eruptive xanthomas, seen in the chylomicronemia syndrome, are small, yellow papules occurring most commonly on the trunk, thighs, and buttocks. Xanthomas occurring in the tendons are seen mostly in familial hypercholesterolemia whilst palmar xanthomas could be seen in dysbetalipoproteinemia. Nodular and painless lesions called tuberous xanthomas are frequently seen on the knees and elbows.
Ocular lesions are uncommon yet distinctive findings of hyperlipoproteinemia. Amongst the most common ophthalmological findings is arcus senilis which is a grayish-white opacification of the corneal periphery [5]. Lipid deposits in and around the eyelid lead to the formation of yellow, raised lesions called xanthelasmas. Retinal lesions such as lipemia retinalis may be observed in some patients.
Workup
Hyperlipoproteinemia is suspected in patients presenting with the clinical features associated with dyslipidemia, those with a positive family history of premature coronary artery disease, patients suffering from certain conditions such as diabetes mellitus and hypertension, those with an elevated body mass index, and in individuals with significant tobacco smoke exposure. The diagnosis of hyperlipoproteinemia is clinched by a full lipid profile measuring the total cholesterol (TC), triglycerides (TG), high-density lipoproteins (HDL), low-density lipoproteins (LDL), and very-low-density lipoproteins (VLDL).
The TC and TG values measure the amount of cholesterol and triglycerides present in all the lipoproteins in the plasma. TC and TG values can show a day-to-day variation of 10% and up to 25%, respectively, in normal individuals and are measured directly, as is HDL cholesterol. Direct measurements of LDL cholesterol are usually not required. LDL values reflect the amount of non-VLDL, non-HDL cholesterol circulating in the plasma. VLDL values are derived from the TG levels.
For accurate measurements, the serum lipid profile needs to be done in a fasting state of 12 hours [6]. Testing should be delayed in the presence of an active focus of infection or an acute cardiac event.
Other tests that may be done in patients with hyperlipoproteinemia include lipoprotein (a), apoprotein B-100 (apo B), and C-reactive protein (CRP) [7] [8].
Treatment
[…] in Treatment of Hyperlipoproteinemia Kooti Chowk, Main Market, Shastri Nagar, Landmark: PVS Mall, Meerut Shastri Nagar Meerut Dr.Mahesh Mittal MBBS General Physician - Specializes in Treatment of Hyperlipoproteinemia 17, K.N.Modi Complex GT Road Ghaziabad [lybrate.com]
Medium interval between the first cardiovascular event and LA treatment was 6.4 ± 5.6 years and the average LA treatment period was 6.8 ± 4.9 years. [ncbi.nlm.nih.gov]
Prognosis
Establishing a diagnosis enables deeper understanding of prognosis, since prognosis varies between different hypertriglyceridemias. [acc.org]
The prognosis is good with treatment; without treatment, death can result from pancreatitis. Resources - Hyperlipoproteinemia type 1 Not supplied. [checkorphan.org]
Prognosis The prognosis is good for Type 1 hyperlipoproteinemia with treatment; without treatment, death may result. For Type 2 the prognosis is poor even with treatment. [medical-dictionary.thefreedictionary.com]
This favorable prognosis may be dus to the absence of prominent obesity and glucose intolerance in this kindred. [nejm.org]
Your overall prognosis will depend on: How soon you are diagnosed When you start treatment and make the necessary lifestyle changes How well you stick to your treatment plan Possible Complications Complications from mixed hyperlipidemia arise when the [verywellhealth.com]
Etiology
We failed to fully identify the genetic etiology in 2 cases: 1 had a heterozygous LPL mutation only and another did not have any mutations. [ncbi.nlm.nih.gov]
Etiology Acquired (more common) Obesity Diabetes mellitus Physical inactivity Heavy consumption of alcohol Hypothyroidism Nephrotic syndrome Cholestatic liver disease Cushing disease Drugs: antipsychotics, beta blockers (e.g., metoprolol), oral contraceptive [amboss.com]
Epidemiology
Epidemiological data refers to the US, unless otherwise specified. [amboss.com]
Author information 1 Charité University Medicine Berlin, Evangelical Geriatrics Center Berlin, Berlin, Germany. [email protected] Abstract Recent epidemiologic and Mendelian randomization studies together have provided evidence that lipoprotein [ncbi.nlm.nih.gov]
Summary Epidemiology The prevalence is estimated at 1/10,000 in the general population. Men are predominantly affected (male-female ratio about 2:1). The disease very rarely occurs before adulthood or in premenopausal women. [orpha.net]
The disorder affects about 1 out of 1,000,000 people; however, epidemiological data are limited and there are regional differences due to cofounder effect (e.g. in Canada) or intermarriage. [en.wikipedia.org]
Nephrology, dialysis, transplantation, 15(6): 765-8 [ CR ] [ PM ] [ EČ ][ 6 ][ GS ] Zoccali, C. (2006) Traditional and emerging cardiovascular and renal risk factors: An epidemiologic perspective. [scindeks.ceon.rs]
Pathophysiology
METHODS: An illustrative case, with associated clinical and laboratory data, is presented, and relevant clinical and pathophysiologic studies from the literature are reviewed. [ncbi.nlm.nih.gov]
Classification Pathophysiology Clinical features There are typically no specific signs or symptoms. [amboss.com]
Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy. Journal of Clinical Lipidology. 2017;11(1):12-23.e11. Blum CB. [rarediseases.org]
Prevention
Secondary prevention Intensity of statin therapy in primary and secondary prevention Safety Recommendations Guideline on Lifestyle Management Editor-In-Chief: C. [wikidoc.org]
Results of 5 years prospective follow-up confirmed that LA has a lasting effect on prevention of cardiovascular events in patients with Lp(a)-HLP and afore progressive CVD. [ncbi.nlm.nih.gov]
References
- US Preventive Services Task Force. Screening for lipid disorders in adults: U.S. Preventive Services Task Force recommendation statement. Rockville, Md: Agency for Healthcare Research and Quality; 2008.
- Jellinger PS, Smith DA, Mehta AE, et al. American Association of Clinical Endocrinologists' Guidelines for Management of Dyslipidemia and Prevention of Atherosclerosis. Endocr Pract. 2012;18(Suppl 1):1-78.
- Leaf DA. Chylomicronemia and the chylomicronemia syndrome: a practical approach to management. Am J Med. 2008;121(1):10-12.
- Fortson MR, Freedman SN, Webster PD 3rd. Clinical assessment of hyperlipidemic pancreatitis. Am J Gastroenterol. 1995;90(12):2134-2139.
- Wu CW, Lin PY, Liu YF, et al. Central corneal mosaic opacities in Schnyder's crystalline dystrophy. Ophthalmology. 2005;112(4):650-653.
- Berglund L, Brunzell JD, Goldberg AC, et al. Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2012;97(9):2969-2989.
- Institute for Clinical Systems Improvement. Lipid management in adults. Bloomington, Minn: Institute for Clinical Systems Improvement; 2009.
- Utermann G. Lipoprotein(a). In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. pp. 2753–2787.