Lipoprotein disorders: Difference between revisions

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| [[File:Siren.gif|30px|link= Dyslipidemia resident survival guide]]|| <br> || <br>
| [[Dyslipidemia resident survival guide|'''Resident'''<br>'''Survival'''<br>'''Guide''']]
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{{Lipoprotein disorders}}
{{Lipoprotein disorders}}
{{CMG}}; {{AE}} {{Rim}}, {{HP}}, {{TarekNafee}}, {{PTD}}, {{AKI}}, {{USAMA}}, {{SCh}}, {{VD}}
{{CMG}}; {{AE}} {{Rim}}, {{HP}}, {{TarekNafee}}, {{PTD}}, {{AKI}}, {{USAMA}}, {{SCh}}, {{VD}}


{{SK}}
==Overview==
==Overview==
Lipoproteins are aggregates of proteins and lipids that facilitate the circulation of hydrophobic lipids in the body. Disorders of lipids and lipoproteins metabolism have important health consequences, primarily on the cardiovascular system; however, may also affect the cerebrovascular system as well as the gastrointestinal system. Lipoprotein disorders can be described as abnormalities in the level of the lipids, which include cholesterol and triglycerides, or as abnormalities in the levels of lipoproteins that include LDL, HDL, VLDL and chylomicrons.
[[Lipoproteins]] are aggregates of proteins and lipids that facilitate the circulation of [[hydrophobic]] lipids in the body. Disorders of [[Lipid|lipids]] and [[Lipoprotein|lipoproteins]] metabolism have important health consequences, primarily on the cardiovascular system; however, may also affect the cerebrovascular system as well as the gastrointestinal system. Lipoprotein disorders can be described as abnormalities in the level of the lipids, which include cholesterol and triglycerides, or as abnormalities in the levels of lipoproteins that include [[Low density lipoprotein|LDL]], [[High density lipoprotein|HDL,]] [[Very low density lipoprotein|VLDL]] and [[chylomicrons]].


Lipoprotein disorders (also referred to as ''Lipid disorders, or Dyslipidemias, or Dyslipoproteinemias'') were first classified in 1967 into different phenotypes by Fredrickson according to the type of lipoproteins that are affected. This approach is considered outdated for a number of reasons. Firstly, Friedrickson's classification failed to classify disorders of low lipids. Secondly, Fredrickson's classification of hyperlipoproteinemias took into consideration the elevation in chylomicrons, LDL, VLDL but did not include abnormalities in HDL levels. Other classifications have been suggested, one of which is the National Cholesterol Education Program (NCEP) classification of lipoprotein disorders. NCEP classifies lipid disorders according to laboratory cut off points for the levels of total cholesterol, LDL-C and HDL.
Lipoprotein disorders (also referred to as ''Lipid disorders, or Dyslipidemias, or Dyslipoproteinemias'') were first classified in 1967 into different phenotypes by Fredrickson according to the type of [[lipoproteins]] that are affected. This approach is considered outdated for a number of reasons. Firstly, Friedrickson's classification failed to classify disorders of [[Hypolipoproteinemia|low lipids]]. Secondly, Fredrickson's classification of [[hyperlipoproteinemia]]<nowiki/>s took into consideration the elevation in [[chylomicrons]], [[LDL]], [[Very low density lipoprotein|VLDL]] but did not include abnormalities in [[HDL Cholesterol|HDL]] levels. Other classifications have been suggested, one of which is the National Cholesterol Education Program (NCEP) classification of lipoprotein disorders. NCEP classifies lipid disorders according to laboratory cut off points for the levels of total cholesterol, [[LDL-C]] and [[High-density lipoprotein|HDL]].


Lipoprotein disorders must be initially classified broadly into hypolipidemias and hyperlipidemias corresponding to low or high lipid levels, respectively. Each of these broad categories may be further classified into primary (genetic) causes or secondary environmental causes (e.g. substance abuse, medication use, lifestyle habits, or underlying diseases etc.). Secondary causes of lipid disorders are more common and thus must be ruled out before exploring primary causes of dyslipidemia.
Lipoprotein disorders must be initially classified broadly into [[Hypolipoproteinemia|hypolipidemias]] and [[Hyperlipoproteinemia|hyperlipidemias]] corresponding to low or high [[lipid]] levels, respectively. Each of these broad categories may be further classified into primary (genetic) causes or secondary environmental causes (e.g. [[substance abuse]], medication use, lifestyle habits, or underlying diseases, etc.). Secondary causes of lipid disorders are more common and thus must be ruled out before exploring the primary causes of dyslipidemia.


Primary dyslipidemias are generally consistent in the way they affect the lipoproteins. Hyperlipoproteinemias generally cause elevations in the affected lipids/lipoproteins and hypolipoproteinemias generally cause reductions in the affected lipids/lipoproteins. Secondary dyslipidemias, on the other hand, may cause elevations in some lipoproteins and reductions in others. An example of this is the lipid profile in patients with diabetes mellitus, which commonly reveals a dyslipidemic triad consisting of elevated LDL and triglycerides with a concurrent reduction in HDL.<ref name="pmid20524075">{{cite journal| author=Musunuru K| title=Atherogenic dyslipidemia: cardiovascular risk and dietary intervention. | journal=Lipids | year= 2010 | volume= 45 | issue= 10 | pages= 907-14 | pmid=20524075 | doi=10.1007/s11745-010-3408-1 | pmc=2950930 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20524075  }} </ref><ref name="pmid16259526">{{cite journal| author=Nesto RW| title=Beyond low-density lipoprotein: addressing the atherogenic lipid triad in type 2 diabetes mellitus and the metabolic syndrome. | journal=Am J Cardiovasc Drugs | year= 2005 | volume= 5 | issue= 6 | pages= 379-87 | pmid=16259526 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16259526  }} </ref> In this case, diabetes mellitus and metabolic syndrome would be widely considered a hyperlipidemic disease due to the array of cardiovascular and cerebrovascular sequelae that arise consequent to the chronic hyperlipidemia associated with the disease.<ref name="pmid16259526">{{cite journal| author=Nesto RW| title=Beyond low-density lipoprotein: addressing the atherogenic lipid triad in type 2 diabetes mellitus and the metabolic syndrome. | journal=Am J Cardiovasc Drugs | year= 2005 | volume= 5 | issue= 6 | pages= 379-87 | pmid=16259526 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16259526  }} </ref> This is to say that in cases of mixed (elevated and decreased) findings on the lipid profile, clinicians must evaluate the secondary causes of the dysipidemia and manage the affected lipoproteins accordingly.
Primary dyslipidemias are generally consistent in the way they affect the [[lipoproteins]]. [[Hyperlipoproteinemia|Hyperlipoproteinemias]] generally cause elevations in the affected lipids/lipoproteins and [[hypolipoproteinemia]]<nowiki/>s generally cause reductions in the affected lipids/lipoproteins. Secondary dyslipidemias, on the other hand, may cause elevations in some lipoproteins and reductions in others. An example of this is the [[lipid profile]] in patients with [[diabetes mellitus]], which commonly reveals a dyslipidemic triad consisting of elevated [[Low density lipoprotein|LDL]] and [[triglycerides]] with a concurrent reduction in [[High density lipoprotein|HDL]].<ref name="pmid20524075">{{cite journal| author=Musunuru K| title=Atherogenic dyslipidemia: cardiovascular risk and dietary intervention. | journal=Lipids | year= 2010 | volume= 45 | issue= 10 | pages= 907-14 | pmid=20524075 | doi=10.1007/s11745-010-3408-1 | pmc=2950930 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20524075  }} </ref><ref name="pmid16259526">{{cite journal| author=Nesto RW| title=Beyond low-density lipoprotein: addressing the atherogenic lipid triad in type 2 diabetes mellitus and the metabolic syndrome. | journal=Am J Cardiovasc Drugs | year= 2005 | volume= 5 | issue= 6 | pages= 379-87 | pmid=16259526 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16259526  }} </ref> In this case, [[diabetes mellitus]] and [[metabolic syndrome]] would be widely considered a hyperlipidemic disease due to the array of cardiovascular and cerebrovascular sequelae that arise consequent to the chronic hyperlipidemia associated with the disease.<ref name="pmid16259526">{{cite journal| author=Nesto RW| title=Beyond low-density lipoprotein: addressing the atherogenic lipid triad in type 2 diabetes mellitus and the metabolic syndrome. | journal=Am J Cardiovasc Drugs | year= 2005 | volume= 5 | issue= 6 | pages= 379-87 | pmid=16259526 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16259526  }} </ref> This is to say that in cases of mixed (elevated and decreased) findings on the [[lipid profile]], clinicians must evaluate the secondary causes of the dysipidemia and manage the affected lipoproteins accordingly.




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|-
|-
| rowspan="9" |[[Hyperlipoproteinemia|Hyperlipoproteinemias]]
| rowspan="9" |[[Hyperlipoproteinemia|Hyperlipoproteinemias]]
| Autosomal dominant hypercholesterolemia || PCSK9 || LDL
| Autosomal dominant hypercholesterolemia || [[PCSK9]] || [[LDL]]
|-
|-
| Autosomal recessive hypercholesterolemia || ARH || LDL
| Autosomal recessive hypercholesterolemia || ARH || [[LDL]]
|-
|-
| Familial sitosterolemia || ABCG5 - ABCG8|| LDL
| Familial sitosterolemia || [[ABCG5]] - [[ABCG8]]|| [[LDL]]
|-
|-
| Familial lipoprotein(a) hyperlipoproteinemia || Apo(a)|| LDL
| Familial lipoprotein(a) hyperlipoproteinemia || [[APOA2|Apo(a)]]|| [[LDL]]
|-
|-
| Familial defective apo B100|| Apo B ||LDL
| Familial defective apo B100|| [[Apo B]] ||[[LDL]]
|-
|-
| Hepatic lipase deficiency|| HL ||
| Hepatic lipase deficiency|| [[Hepatic lipase|HL]] ||
|-
|-
| [[Lipoprotein lipase deficiency]] || LPL|| Chylomicron
| [[Lipoprotein lipase deficiency]] || [[LPL]]|| [[Chylomicron]]
|-
|-
| Apo C-II deficiency|| Apo C-II || Chylomicron
| Apo C-II deficiency|| [[Apo C-II]] || [[Chylomicron]]
|-
|-
| Apo A-V deficiency || Apo A-V deficiency || Chylomicron
| Apo A-V deficiency || [[Apo A-V]] deficiency || [[Chylomicron]]
|-
|-
| rowspan="5" |[[Hypolipoproteinemia|Hypolipoproteinemias]]
| rowspan="5" |[[Hypolipoproteinemia|Hypolipoproteinemias]]
| [[Familial hypoalphalipoproteinemia]]|| ||
| [[Familial hypoalphalipoproteinemia]]|| ||
|-
|-
| GPIHBP1 deficiency|| GPIHBP1|| Chylomicron
| GPIHBP1 deficiency|| [[GPIHBP1]]|| [[Chylomicron]]
|-
|-
| [[Apo A-I]] deficiency|| Apo A-I || HDL
| [[Apo A-I]] deficiency|| [[Apo A-I]] || [[HDL]]
|-
|-
| [[CETP]] deficiency || CETP|| HDL
| [[CETP]] deficiency || [[CETP]]|| [[HDL]]
|-
|-
| [[Niemann-Pick disease]]|| SMPD1, NPC1|| HDL
| [[Niemann-Pick disease]]|| SMPD1, NPC1|| [[HDL]]
|}
|}


== Classification ==
== Classification ==
<br>
{{familytree/start |summary=Lipid disorders}}
{{familytree/start |summary=Lipid disorders}}
{{familytree | | | | | | | | | | | | | | | | A01 | | | | | | | A01= '''Lipid disorders'''}}
{{familytree | | | | | | | | | | | | | | | | A01 | | | | | | | A01= '''Lipid disorders'''}}
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{{familytree | | | | | | | | | | | | | | | F01 | | | | F02 | F01='''Type A:'''<br> [[Familial hypercholesterolemia]]| F02= '''Type B:'''<br> [[Familial combined hyperlipidemia]]}}
{{familytree | | | | | | | | | | | | | | | F01 | | | | F02 | F01='''Type A:'''<br> [[Familial hypercholesterolemia]]| F02= '''Type B:'''<br> [[Familial combined hyperlipidemia]]}}
{{familytree/end}}
{{familytree/end}}
 
==Treatment==
*To view detailed treatment of dyslipidemia [[Dyslipidemia resident survival guide|click here]].
==References==
==References==
{{reflist|2}}
{{reflist|2}}
{{Lipopedia}}
{{Lipopedia}}
[[Category:Cardiology]]
[[Category:Cardiology]]
{{WH}}
{{WS}}

Latest revision as of 18:42, 17 December 2020



Resident
Survival
Guide

Lipoprotein Disorders Microchapters

Patient Information

Overview

Causes

Classification

Hyperlipoproteinemia
Hypolipoproteinemia

Treatment

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Rim Halaby, M.D. [2], Hardik Patel, M.D., Tarek Nafee, M.D. [3], Prince Tano Djan, BSc, MBChB [4], Aravind Kuchkuntla, M.B.B.S[5], Usama Talib, BSc, MD [6], Shivani Chaparala M.B.B.S [7], Vishal Devarkonda, M.B.B.S[8]

Synonyms and keywords:

Overview

Lipoproteins are aggregates of proteins and lipids that facilitate the circulation of hydrophobic lipids in the body. Disorders of lipids and lipoproteins metabolism have important health consequences, primarily on the cardiovascular system; however, may also affect the cerebrovascular system as well as the gastrointestinal system. Lipoprotein disorders can be described as abnormalities in the level of the lipids, which include cholesterol and triglycerides, or as abnormalities in the levels of lipoproteins that include LDL, HDL, VLDL and chylomicrons.

Lipoprotein disorders (also referred to as Lipid disorders, or Dyslipidemias, or Dyslipoproteinemias) were first classified in 1967 into different phenotypes by Fredrickson according to the type of lipoproteins that are affected. This approach is considered outdated for a number of reasons. Firstly, Friedrickson's classification failed to classify disorders of low lipids. Secondly, Fredrickson's classification of hyperlipoproteinemias took into consideration the elevation in chylomicrons, LDL, VLDL but did not include abnormalities in HDL levels. Other classifications have been suggested, one of which is the National Cholesterol Education Program (NCEP) classification of lipoprotein disorders. NCEP classifies lipid disorders according to laboratory cut off points for the levels of total cholesterol, LDL-C and HDL.

Lipoprotein disorders must be initially classified broadly into hypolipidemias and hyperlipidemias corresponding to low or high lipid levels, respectively. Each of these broad categories may be further classified into primary (genetic) causes or secondary environmental causes (e.g. substance abuse, medication use, lifestyle habits, or underlying diseases, etc.). Secondary causes of lipid disorders are more common and thus must be ruled out before exploring the primary causes of dyslipidemia.

Primary dyslipidemias are generally consistent in the way they affect the lipoproteins. Hyperlipoproteinemias generally cause elevations in the affected lipids/lipoproteins and hypolipoproteinemias generally cause reductions in the affected lipids/lipoproteins. Secondary dyslipidemias, on the other hand, may cause elevations in some lipoproteins and reductions in others. An example of this is the lipid profile in patients with diabetes mellitus, which commonly reveals a dyslipidemic triad consisting of elevated LDL and triglycerides with a concurrent reduction in HDL.[1][2] In this case, diabetes mellitus and metabolic syndrome would be widely considered a hyperlipidemic disease due to the array of cardiovascular and cerebrovascular sequelae that arise consequent to the chronic hyperlipidemia associated with the disease.[2] This is to say that in cases of mixed (elevated and decreased) findings on the lipid profile, clinicians must evaluate the secondary causes of the dysipidemia and manage the affected lipoproteins accordingly.


Causes

For a complete list of causes of hyperlipoproteinemia click here.
For a complete list of causes of hypolipoproteinemia click here.

The table below summarizes is a list of primary lipoprotein disorders:

Type of lipoprotein disorder Genetic Lipoprotein Disorder Gene Involved Main Lipoprotein Involved
Hyperlipoproteinemias Autosomal dominant hypercholesterolemia PCSK9 LDL
Autosomal recessive hypercholesterolemia ARH LDL
Familial sitosterolemia ABCG5 - ABCG8 LDL
Familial lipoprotein(a) hyperlipoproteinemia Apo(a) LDL
Familial defective apo B100 Apo B LDL
Hepatic lipase deficiency HL
Lipoprotein lipase deficiency LPL Chylomicron
Apo C-II deficiency Apo C-II Chylomicron
Apo A-V deficiency Apo A-V deficiency Chylomicron
Hypolipoproteinemias Familial hypoalphalipoproteinemia
GPIHBP1 deficiency GPIHBP1 Chylomicron
Apo A-I deficiency Apo A-I HDL
CETP deficiency CETP HDL
Niemann-Pick disease SMPD1, NPC1 HDL

Classification

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Lipid disorders
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Hypolipoproteinemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Hyperlipoproteinemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Primary
 
 
 
 
Secondary
 
 
 
 
 
 
 
 
Primary
 
 
 
 
Secondary
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Low LDL
 
 
 
Low HDL
 
Anemia,
Chronic inflammation,
Chronic liver disease,
Hyperthyroidism,
Infection,
Malabsorption,
Malignancy,
Criticial illness,
More Causes...
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Alcohol,
Diabetes,
Drugs,
Liver disease,
Obesity,
Renal disease,
Smoking,
Hypothyroidism
More Causes...
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Abetalipoproteinemia
Hypobetalipoproteinemia
PCSK9 deficiency
Chylomicron retention disease
Familial combined hypolipidemia
 
 
 
LCAT deficiency,
Apolipoprotein 1 deficiency,
Familial hypoalphalipoproteinemia,
Tangier disease, FISH eye disease, Familial combined hypolipidemia
 
 
 
 
Type I:
Familial hyperchylomicronemia
 
Type II
 
Type III:
Dysbetalipoproteinemia
 
Type IV:
Primary hypertriglyceridemia
 
Type V:
Mixed hyperlipoproteinemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Type A:
Familial hypercholesterolemia
 
 
 
Type B:
Familial combined hyperlipidemia

Treatment

  • To view detailed treatment of dyslipidemia click here.

References

  1. Musunuru K (2010). "Atherogenic dyslipidemia: cardiovascular risk and dietary intervention". Lipids. 45 (10): 907–14. doi:10.1007/s11745-010-3408-1. PMC 2950930. PMID 20524075.
  2. 2.0 2.1 Nesto RW (2005). "Beyond low-density lipoprotein: addressing the atherogenic lipid triad in type 2 diabetes mellitus and the metabolic syndrome". Am J Cardiovasc Drugs. 5 (6): 379–87. PMID 16259526.