Lipid disorders

Last updated: November 3, 2023

Summarytoggle arrow icon

Lipid disorders encompass a spectrum of metabolic conditions that affect blood lipid levels. They are generally characterized by elevated levels of cholesterol, triglycerides, and/or lipoproteins in the blood, which are often associated with atherosclerotic cardiovascular disease (ASCVD). Hyperlipidemia is most commonly a result of genetic predisposition in combination with lifestyle factors (e.g., diet, lack of activity, alcohol consumption). Hyperlipidemia resulting from single-gene disorders, e.g., familial hypercholesterolemia, can cause severe elevations in lipoprotein levels and early atherosclerotic complications. Lipid disorders are usually detected during laboratory testing as part of an ASCVD risk assessment. A serum lipid panel includes total cholesterol, LDL, HDL, and triglyceride levels. Lipid-lowering therapy is indicated to reduce the risk of cardiovascular disease in patients with LDL > 190 mg/dL, diabetes mellitus, and established ASCVD, and should be considered for other patients based on individual ASCVD risk. The main treatment modalities are lifestyle modifications and lipid-lowering agents such as statins.

Abetalipoproteinemia is a congenital lipid disorder in which a deficiency of apolipoproteins (hypolipoproteinemia) leads to impaired intestinal absorption of fats and fat-soluble vitamins. Symptoms usually appear during childhood and mainly consist of failure to thrive, steatorrhea, and signs of vitamin E deficiency. Treatment includes vitamin E supplementation.

Definitiontoggle arrow icon

Epidemiologytoggle arrow icon

Epidemiological data refers to the US, unless otherwise specified.

Etiologytoggle arrow icon

Severe dyslipidemia (e.g., LDL > 190 mg/dL) suggests an underlying monogenic disorder and/or a strong polygenic predisposition. [2]

Secondary causes of dyslipidemia [2][3][4]
Elevated LDL cholesterol Elevated triglycerides
Lifestyle factors
  • High intake of saturated and/or trans fats
  • Physical inactivity
Medical conditions

Pathophysiologytoggle arrow icon

Dyslipidemia is a major risk factor for ASCVD.

Clinical featurestoggle arrow icon

  • Dyslipidemia is usually asymptomatic.
  • Severe and/or persistent elevation can cause:
  • In genetic lipid disorders, symptoms generally occur at an earlier age and are more severe than in acquired lipid disorders.

Skin manifestations


Types of xanthomas
Description Location Associated condition
Eruptive xanthoma
  • Yellow papules with an erythematous border
  • May be tender and itchy
  • Buttocks, back, and extensor surfaces of the extremities
Tuberous xanthoma
  • Firm, painless, reddish-yellow nodules located in pressure areas
  • Severe hypercholesterinemia (LDL and/or VLDL levels)

Tendinous xanthoma

  • Severe hypercholesterinemia (LDL and/or VLDL levels)

Palmar xanthoma

  • Palms of the hands

Plane xanthoma

  • Larger body areas, e.g., trunk, neck, shoulders



Eye manifestations

Subtypes and variantstoggle arrow icon

Overview of inherited hyperlipoproteinemias

Frederickson classification of inherited hyperlipoproteinemias [8]
I Type II hyperlipoproteinemia III Type IV hyperlipoproteinemia V
  • Familial hyperchylomicronemia [9]
  • Familial hypercholesterolemia [10]
  • Familial combined hyperlipidemia [11]
  • Familial hypertriglyceridemia [13]
  • Mixed hyperlipidemia [14]
Frequency [15]
  • Rare
  • 1:50–1:200
  • 1:1000–1:5000
  • 1:50–1:100
  • Very rare
  • Hepatic overproduction of VLDL or defective ApoA-V
  • Defective ApoA5
Clinical manifestations
Lipoprotein defect
Total cholesterol
  • Normal to mildly ↑
  • Massively ↑
  • Normal to mildly ↑
Elevated serum lipoproteins
Total triglycerides
  • Massively ↑
  • Can be > 2,000 mg/dL
  • Normal
  • Massively ↑
  • Massively ↑
Overnight plasma
  • Creamy top layer
  • Clear
  • Clear
  • Turbid
  • Turbid
  • Creamy top and turbid bottom layer


Diagnosticstoggle arrow icon

General principles [16][17]

Screening for lipid disorders [1]

A nonfasting or fasting lipid panel is acceptable. [16]

  • Adults age 20–75 years
  • Children and adolescents age < 20 years
    • The American Academy of Pediatrics recommends universal screening before and after puberty. [19]
    • The USPSTF has found insufficient evidence regarding the benefits vs. harms of universal screening. [20]

For individuals with a family history suggestive of premature ASCVD and/or inherited hyperlipoproteinemia, begin screening as early as age 2 years. [16]

Diagnostic confirmation [4][16][17]

Optimal lipid levels

Assays for apolipoprotein B and lipoprotein(a) are not formally standardized and results may therefore be unreliable.

Additional evaluation [1][2][17]

Secondary causes [1][2][17]

Monogenic causes [2][4][25][26]

Treatmenttoggle arrow icon

This section focuses on the treatment of severe LDL cholesterol and triglyceride elevations. For non-severe hyperlipidemia, treatment is based on the calculated ASCVD risk.

Approach [1][16]

Treatment of monogenic disease (e.g., familial hyperlipidemia) can be hindered by unaddressed secondary causes of dyslipidemia. [2]


Very high LDL cholesterol [16][26][27]

Severe hypertriglyceridemia [1][5][16]

In patients with LDL cholesterol < 190 mg/dL and/or triglycerides < 500 mg/dL, treatment with statins may still be indicated depending on ASCVD risk.

Xanthoma and xanthelasma [28][29]

  • Treatment may be considered for cosmetic reasons, but recurrence is common.
  • Methods include surgical, laser, and/or topical therapy.

Complicationstoggle arrow icon

We list the most important complications. The selection is not exhaustive.

Special patient groupstoggle arrow icon

Treatment of dyslipidemia in children [30]

Base treatment decisions on average of ≥ 2 fasting lipid panels taken within 2 weeks to 3 months of each other. The goal of medical therapy is to lower LDL cholesterol to ≤ 130 mg/dL.

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Referencestoggle arrow icon

  1. Rosenson RS, JP Kastelein JJP. Hypertriglyceridemia. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. Last updated: February 28, 2017. Accessed: January 14, 2018.
  2. HYPERLIPOPROTEINEMIA, TYPE I. Updated: September 7, 2016. Accessed: April 3, 2019.
  3. HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS. Updated: January 21, 2009. Accessed: April 3, 2019.
  4. Rosenson RS, Durrington P. Inherited disorders of LDL-cholesterol metabolism other than familial hypercholesterolemia. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. Last updated: March 27, 2018. Accessed: April 3, 2019.
  5. HYPERLIPOPROTEINEMIA, TYPE III. Updated: March 22, 2018. Accessed: April 3, 2019.
  6. HYPERLIPOPROTEINEMIA, TYPE IV. Updated: November 22, 2010. Accessed: April 3, 2019.
  7. HYPERLIPOPROTEINEMIA, TYPE V. Updated: June 3, 2018. Accessed: April 3, 2019.
  8. Bays HE, Jones PH, Orringer CE, Brown WV, Jacobson TA. National Lipid Association Annual Summary of Clinical Lipidology 2016. Journal of Clinical Lipidology. 2016; 10 (1): p.S1-S43.doi: 10.1016/j.jacl.2015.08.002 . | Open in Read by QxMD
  9. Berberich AJ, Hegele RA. A Modern Approach to Dyslipidemia. Endocr Rev. 2021; 43 (4): p.611-653.doi: 10.1210/endrev/bnab037 . | Open in Read by QxMD
  10. Stone NJ, Robinson JG, Lichtenstein AH, et al. 2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults. Circulation. 2014; 129 (25_suppl_2).doi: 10.1161/01.cir.0000437738.63853.7a . | Open in Read by QxMD
  11. Jellinger PS et al.. American Association of Clinical Endocrinologists and American College of Endocrinology Guidelines for Management of Dyslipidemia and Prevention of Cardiovascular Disease. Endocr Pract. 2017; 23 (Supplement 2): p.1-87.doi: 10.4158/ep171764.appgl . | Open in Read by QxMD
  12. Virani SS, Morris PB, Agarwala A, et al. 2021 ACC Expert Consensus Decision Pathway on the Management of ASCVD Risk Reduction in Patients With Persistent Hypertriglyceridemia. J Am Coll Cardiol. 2021; 78 (9): p.960-993.doi: 10.1016/j.jacc.2021.06.011 . | Open in Read by QxMD
  13. Skrede S, Steen VM, Fern⊘ J. Antipsychotic-induced increase in lipid biosynthesis: activation through inhibition?. J Lipid Res. 2013; 54 (2): p.307-309.doi: 10.1194/jlr.e034736 . | Open in Read by QxMD
  14. Arnaldi G, Scandali VM, Trementino L, Cardinaletti M, Appolloni G, Boscaro M. Pathophysiology of dyslipidemia in Cushing’s syndrome. Neuroendocrinology. 2010; 92 (1): p.86-90.doi: 10.1159/000314213 . | Open in Read by QxMD
  15. Grundy SM, Stone NJ, Bailey AL, et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2018; 139 (25).doi: 10.1161/cir.0000000000000625 . | Open in Read by QxMD
  16. Wilson PWF, Jacobson TA, Martin SS, et al. Lipid measurements in the management of cardiovascular diseases: Practical recommendations a scientific statement from the national lipid association writing group. J Clin Lipidol. 2021; 15 (5): p.629-648.doi: 10.1016/j.jacl.2021.09.046 . | Open in Read by QxMD
  17. Handelsman Y, Jellinger PS, Guerin CK, et al. Consensus Statement by the American Association of Clinical Endocrinologists and American College of Endocrinology on the Management of Dyslipidemia and Prevention of Cardiovascular Disease Algorithm – 2020 Executive Summary. Endocr Pract. 2020; 26 (10): p.1196-1224.doi: 10.4158/cs-2020-0490 . | Open in Read by QxMD
  18. Arnett DK, Blumenthal RS, Albert MA, et al. 2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease. J Am Coll Cardiol. 2019; 74 (10): p.e177-e232.doi: 10.1016/j.jacc.2019.03.010 . | Open in Read by QxMD
  19. Hackell M, Almendarez YM, et al. 2023 Recommendations for Preventive Pediatric Health Care. Pediatrics. 2023; 151 (4).doi: 10.1542/peds.2023-061451 . | Open in Read by QxMD
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  21. Sampson M, Ling C, Sun Q, et al. A New Equation for Calculation of Low-Density Lipoprotein Cholesterol in Patients With Normolipidemia and/or Hypertriglyceridemia. JAMA Cardiol. 2020; 5 (5): p.540-548.doi: 10.1001/jamacardio.2020.0013 . | Open in Read by QxMD
  22. Peter P. Toth. The “Good Cholesterol”. Circulation. 2005; 111 (5).doi: 10.1161/ . | Open in Read by QxMD
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  25. Brown EE, Sturm AC, Cuchel M, et al. Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association. J Clin Lipidol. 2020; 14 (4): p.398-413.doi: 10.1016/j.jacl.2020.04.011 . | Open in Read by QxMD
  26. Lui DTW, Lee ACH, Tan KCB. Management of Familial Hypercholesterolemia: Current Status and Future Perspectives. J Endocr Soc. 2020; 5 (1).doi: 10.1210/jendso/bvaa122 . | Open in Read by QxMD
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  28. Rohrich RJ, Janis JE, Pownell PH. Xanthelasma Palpebrarum: A Review and Current Management Principles. Plast Reconstr Surg. 2002; 110 (5): p.1310-4.doi: 10.1097/01.prs.0000025626.70065.2b . | Open in Read by QxMD
  29. Sathiyakumar V; Jones SR; Martin SS. Fitzpatrick's Dermatology, Ninth Edition, 2-Volume Set. McGraw-Hill Education / Medical ; 2019
  30. National Heart, Lung, and Blood Institute. Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents: Summary Report. Pediatrics. 2011; 128 (Supplement): p.S213-S256.doi: 10.1542/peds.2009-2107c . | Open in Read by QxMD

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