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.

• Splenectomy

  Long-term follow-up (37 years) of the first patient revealed hypothyroidism at diagnosis requiring thyroxine replacement, palmar xanthomas requiring surgical removal, splenomegaly requiring splenectomy, 18 episodes of pancreatitis and premature coronary [ncbi.nlm.nih.gov]

• Euthyroid

  Ultimately, with attainment of euthyroidism in the subsequent weeks, the lipid profile normalized, with the LDL cholesterol concentration particularly reduced at 55 mg/dL. [ncbi.nlm.nih.gov]

• Biliary Colic

  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. [symptoma.com]

• Exertional Chest Pain

  In addition, there was no exertional chest pain, and treadmill exercise electrocardiographic results were negative. This finding was confirmed by coronary computed tomographic angiography. [ncbi.nlm.nih.gov]

• Retinal Lesion

  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. [symptoma.com]

• Pyramidal Tract Signs

  Abstract We describe an adult patient with type IIa hyperlipoproteinemia, presenting with Achilles tendon xanthomas, cataracts, dementia, ataxia, pyramidal tract signs, and peripheral neuropathy, which are commonly seen in cerebrotendinous xanthomatosis [ncbi.nlm.nih.gov]

• Neglect

  Sometimes coronary artery disease can jeopardize the life of the patient if the condition is neglected. We describe the case of bilateral painful Achilles tendon xanthomas in a heterozygous type II hyperlipoproteinemia family. [ncbi.nlm.nih.gov]

• Myelopathy

  LDL-cholesterol had already been treated and after exclusion of other causes, genetically determined Lp(a)-HLP was considered as the major underlying etiologic factor of ischemic vascular disease in this patient including spinal cord ischemia with vascular myelopathy [ncbi.nlm.nih.gov]

• Action Tremor

  In this study, we investigate 2 KAS patients presenting with progressive muscle weakness and wasting, action tremor, perioral fasciculation and gynecomastia. [ncbi.nlm.nih.gov]

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].

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]

The prognosis is good with treatment; without treatment, death can result from pancreatitis. Resources - Hyperlipoproteinemia type 1 Not supplied. [checkorphan.org]

This favorable prognosis may be dus to the absence of prominent obesity and glucose intolerance in this kindred. [nejm.org]

Prognosis Without treatment, patients have a 5-10 times higher risk of premature and recurrent atherothrombotic events than the general population. The documents contained in this web site are presented for information purposes only. [orpha.net]

[…] and this can bring about a favorable outcome Please find comprehensive information on Familial Lipoprotein Lipase Deficiency regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]

Physiological reviews, 80(4): 1373-409 [ CR ] [ PM ] [ EČ ][ 14 ][ GS ] Parfrey, P.S. (2000) Cardiac disease in dialysis patients: Diagnosis, burden of disease, prognosis, risk factors and management. [scindeks.ceon.rs]

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]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.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]

In epidemiologic and interventional studies, hypertriglyceridemia is a risk factor for coronary artery disease (CAD). [emedicine.medscape.com]

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]

Hypolipoproteinemia Overview Abetalipoproteinemia AR pathophysiology due to mutations in the microsomal triglyceride transfer protein (MTTP) deficiency in apolipoprotein B-48 and B-100 remember: A (without) beta (B) ↓ chylomicrons (B-48), VLDL/LDL (B- [medbullets.com]

It is now replaced by classification based on the understanding of the molecular etiology & pathophysiology of lipoprotein disorders (table 2) [ 4 ]. [omicsonline.org]

Dysbetalipoproteinemia – clinical and pathophysiological features. S Afr Med J. 2002;92:892-7. Mahley RW, Huang Y, Rall Jr. SC. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia): questions, quandaries, and paradoxes. [rarediseases.org]

NDT plus, 1(Suppl 1): 18-23 [ EČ ][ 4 ][ GS ] Cannata-Andia, J.B., Carrera, F. (2008) The Pathophysiology of Secondary Hyperparathyroidism and the Consequences of Uncontrolled Mineral Metabolism in Chronic Kidney Disease: The Role of COSMOS. [scindeks.ceon.rs]

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]

1. 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.
2. 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.
3. Leaf DA. Chylomicronemia and the chylomicronemia syndrome: a practical approach to management. Am J Med. 2008;121(1):10-12.
4. Fortson MR, Freedman SN, Webster PD 3rd. Clinical assessment of hyperlipidemic pancreatitis. Am J Gastroenterol. 1995;90(12):2134-2139.
5. Wu CW, Lin PY, Liu YF, et al. Central corneal mosaic opacities in Schnyder's crystalline dystrophy. Ophthalmology. 2005;112(4):650-653.
6. 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.
7. Institute for Clinical Systems Improvement. Lipid management in adults. Bloomington, Minn: Institute for Clinical Systems Improvement; 2009.
8. 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.