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Hyperlipoproteinemia Type 5

Major Hyperlipidemia


Presentation

  • ARTICLE: PDF Only Abstract A 28-year-old man with poorly controlled juvenile-onset diabetes mellitus presented with jaundice and type 5 hyperlipoproteinemia. A liver biopsy showed fatty liver hepatitis (steatonecrosis).[journals.lww.com]
  • If a creamy supernatant is seen the next day, chylomicrons are present.[wikidoc.org]
  • Abstract The history of a 27-year-old woman with 10 years of episodic abdominal pain and the development of calcific pancreatitis secondary to hyperlipo-proteinemia is presented.[link.springer.com]
  • Patients with type IV may present with eruptive xanthomas.[namrata.co]
Coronary Atherosclerosis
  • Effects of fluvastatin on coronary atherosclerosis in patients with mild to moderate cholesterol elevations (Lipoprotein and Coronary Atherosclerosis Study [LCAS]). Am J Cardiol. 1997;80:278–86. 15.[aafp.org]
  • Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens.[mdpi.com]
Abdominal Pain
  • Overview An inherited disorder where the body\'s ability to break down lipids (triglycerides and cholesterol) is impaired resulting in increased blood lipid levels of chylomicrons and VLDL\'s Symptoms - Hyperlipoproteinemia type 5 * Recurrent abdominal[checkorphan.org]
  • Abstract The history of a 27-year-old woman with 10 years of episodic abdominal pain and the development of calcific pancreatitis secondary to hyperlipo-proteinemia is presented.[link.springer.com]
  • pain resembling pancreatitis usually preceded by the entry of fat into the body.[healthout.blogspot.com]
  • It can cause abdominal pain, pancreatitis, fat deposits in the skin and eyes and a large liver and spleen. Treatment involves eating a healthy diet. Type II hyperlipidemia is divided into type IIa and type IIb.[livestrong.com]
Recurrent Abdominal Pain
  • Overview An inherited disorder where the body\'s ability to break down lipids (triglycerides and cholesterol) is impaired resulting in increased blood lipid levels of chylomicrons and VLDL\'s Symptoms - Hyperlipoproteinemia type 5 * Recurrent abdominal[checkorphan.org]
  • Clinical features include failure to thrive, eruptive xanthomas over extensor surfaces and buttocks, lipemia retinalis, hepatosplenomegaly, recurrent abdominal pain, nausea and vomiting, and risk of acute pancreatitis [ 10, 11 ].[mdpi.com]
Episodic Abdominal Pain
  • Abstract The history of a 27-year-old woman with 10 years of episodic abdominal pain and the development of calcific pancreatitis secondary to hyperlipo-proteinemia is presented.[link.springer.com]
Hepatosplenomegaly
  • Signs and Symptoms of Hiperlipoproteinemia Hiperlipoproteinemia Type I Spasma abdominal, rigidity, or tenderness that arise and disappear anorexia fever Hepatosplenomegaly with softening in the liver or spleen Lipemia retinalis ( reddish white retinal[healthout.blogspot.com]
  • The disease is characterized by atherosclerosis, hepatosplenomegaly, polyneuropathy and orange tonsils. *phew* That's all![medicowesome.com]
  • If left untreated, pancreatitis can develop into a chronic condition that can damage the pancreas and, in rare cases, be life-threatening.Affected individuals may also have an enlarged liver and spleen (hepatosplenomegaly).[icdlist.com]
  • The additional findings may be subjective and include: ABDOMEN: Hepatosplenomegaly. SKIN:Eruptive Xanthomas : Eruptive xanthomas (see the images below) are sometimes found when sustained elevated triglycerides are well above 1000 mg/dL.[wikidoc.org]
  • Some individuals may have an abnormally enlarged liver or spleen (hepatosplenomegaly). Individuals with hyperlipoproteinemia type III may eventually develop inflammation of the pancreas (pancreatitis).[rarediseases.org]
Hepatomegaly
  • She did not have any evidence of glycogen storage disease (no hepatomegaly or hypoglycemic episodes), nephrotic syndrome, hypothyroidism, or diabetes.[academic.oup.com]
  • Diagnosis On examination, findings may be normal, or they may include the following: GI: Tenderness to palpation over mid-epigastric or upper right/left quadrants; hepatomegaly Dermatologic: Eruptive xanthomas on back (see the image below), buttocks,[emedicine.medscape.com]
Xanthoma
  • […] lipids (triglycerides and cholesterol) is impaired resulting in increased blood lipid levels of chylomicrons and VLDL\'s Symptoms - Hyperlipoproteinemia type 5 * Recurrent abdominal pain * Increased VLDL level * Increased chylomicron level * Eruptive xanthoma[checkorphan.org]
  • SKIN:Eruptive Xanthomas : Eruptive xanthomas (see the images below) are sometimes found when sustained elevated triglycerides are well above 1000 mg/dL.[wikidoc.org]
  • Case Discussion Both the sisters are having xanthomas, Xanthomas are lesions characterized by accumulation of lipid-laden macrophages.[namrata.co]
  • Clinical findings: Like type I, but unlike type IV, there is no major risk of atherosclerosis, so that pancreatitis and eruptive xanthomas remain the main complications.[medicowesome.com]
  • Many type III subjects have cutaneous xanthomas, particularly tuberoeruptive or tuberous xanthomas and xanthomas of the palmar creases (xanthoma striata palmaris); the latter have not been identified in any other disorder.[ommbid.mhmedical.com]
Lipemia Retinalis
  • Abstract Of two patients with type 5 hyperlipoproteinemia, one exhibited lipemia retinalis with multiple retinal hemorrhages and intraretinal lipid extravasations.[ncbi.nlm.nih.gov]
  • Journal Article Of two patients with type 5 hyperlipoproteinemia, one exhibited lipemia retinalis with multiple retinal hemorrhages and intraretinal lipid extravasations.[scholars.duke.edu]
  • Atherosclerosis Lipemia retinalis Prognosis The prognosis is uncertain.Patients with HLP V are at an extremely high risk of developing Pancreatitis ( 17%).[wikidoc.org]
  • Signs and Symptoms of Hiperlipoproteinemia Hiperlipoproteinemia Type I Spasma abdominal, rigidity, or tenderness that arise and disappear anorexia fever Hepatosplenomegaly with softening in the liver or spleen Lipemia retinalis ( reddish white retinal[healthout.blogspot.com]
  • Complications include retinal vein occlusion, acute pancreatitis, steatosis, and organomegaly, and lipemia retinalis.[en.wikipedia.org]
Retinal Hemorrhage
  • Abstract Of two patients with type 5 hyperlipoproteinemia, one exhibited lipemia retinalis with multiple retinal hemorrhages and intraretinal lipid extravasations.[ncbi.nlm.nih.gov]
  • Journal Article Of two patients with type 5 hyperlipoproteinemia, one exhibited lipemia retinalis with multiple retinal hemorrhages and intraretinal lipid extravasations.[scholars.duke.edu]

Workup

  • Standard Medical Workup for Alzheimer's Disease. Alzheimer Research Forum [On-line information]. Available online at . Family Caregiver Alliance. Fact Sheet: Alzheimer's Disease [On-line information]. Available online at .[labtestsonline.it]
  • Appropriate blood, urine, and radiographic workups are required to rule out a secondary cause of hyperlipidemia. Lipoprotein profiles are primarily used to assess cardiac risk and to aid in the diagnosis of lipid metabolism disorders.[namrata.co]
  • See Workup for more detail.[emedicine.medscape.com]
Pancreatic Calcification
  • Ring EJ, Eaton SB, Ferrucci JT, Short WF: Differential diagnosis of pancreatic calcification. Am J Roentgenol Radium Ther Nucl Med 117 :446–452, 1973 PubMed Google Scholar 14.[link.springer.com]
  • However in some cases Abdominal X-ray shows Pancreatic Calcification. [20] Other Diagnostic Studies Genetic analysis based on HTG as a trait is not adequate. There are no other diagnostic studies associated with the diagnosis of HLP V.[wikidoc.org]
Hypertriglyceridemia
  • Hubacek JA et al. (2005) Hypertriglyceridemia: interaction between APOE and APOAV variants. Clin Chem 51 : 1311–1313 39.[nature.com]
  • Havel RJ: Pathogenesis, differentiation and management of hypertriglyceridemia. Adv Intern Med 15 :117, 1969 PubMed Google Scholar 8.[link.springer.com]
  • Hypertriglyceridemia (Hypertriglyceridemia) - Genes APOA5, APOC2, LIPI LMF1, GPIHBP1, LPL. Elevated blood triglycerides (hypertriglyceridemia), can be caused by various genetic alterations.[ivami.com]
Chylomicrons Increased
  • Type I hyperlipoproteinemia Chylomicrons increased in childhood. VLDL increased later in life. Lab findings: Increase in serum triglycerides. Why? CPL (Capillary lipprotein lipase) hydrolyzes triglycerides in lipoproteins.[medicowesome.com]
Liver Biopsy
  • A liver biopsy showed fatty liver hepatitis (steatonecrosis). This case represents one end in a spectrum of lipid disorders and liver disease in diabetes mellitus.[journals.lww.com]

Treatment

  • Treatment - Hyperlipoproteinemia type 5 The most effective treatment for type V is weight reduction and long-term maintenance of a low-fat diet. Alcoholic beverages must be avoided.[checkorphan.org]
  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.com]
  • Treatment The evaluation and treatment decisions for HLP V should be based on patient-centered and individual circumstances.[wikidoc.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • References 1. and Grundy SM (2003) The metabolic syndrome: a practical guide to origins and treatment: Part II. Circulation 108 : 1537–1540 2.[nature.com]

Prognosis

  • Prognosis - Hyperlipoproteinemia type 5 Not supplied. Treatment - Hyperlipoproteinemia type 5 The most effective treatment for type V is weight reduction and long-term maintenance of a low-fat diet. Alcoholic beverages must be avoided.[checkorphan.org]
  • Atherosclerosis Lipemia retinalis Prognosis The prognosis is uncertain.Patients with HLP V are at an extremely high risk of developing Pancreatitis ( 17%).[wikidoc.org]
  • Prognosis- Prognosis is good if the underlying cause is treated. Please help "Biochemistry for Medics" by CLICKING ON THE ADVERTISEMENTS above![namrata.co]
  • […] heart attacks, stroke, etc. than the general population Please find comprehensive information on Familial Dysbetalipoproteinemia regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • The overall prognosis for these individuals is in the worst-case scenario if uncontrolled and untreated individuals may die before the age of 20, but if one seeks a prudent diet with correct medical intervention, the individual may see an increased incidence[en.wikipedia.org]

Etiology

  • 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]
  • Yuan G et al. (2007) Hypertriglyceridemia: its etiology, effects and treatment. CMAJ 176 : 1113–1120 5. MacLean DR et al. (1999) Plasma lipids and lipoprotein reference values, and the prevalence of dyslipoproteinemia in Canadian adults.[nature.com]
  • Fredrickson applying electrophoresis methods to the separation of lipoproteins developed a classification of lipoprotein disorders. [1] Classification Classification based on etiology Although the exact etiology of HLP V remains unclear till date,it has[wikidoc.org]
  • J Clin Endocrinol Metab 92 : 1581 – 1589 7. 2007 Hypertriglyceridemia: its etiology, effects and treatment. CMAJ 176 : 1113 – 1120 8. 1994 Gene environment interaction and plasma triglyceride levels: the crucial role of lipoprotein lipase.[academic.oup.com]
  • Other causes, such as common bile duct obstruction and alcoholism, must be considered as possible etiologies.[emedicine.medscape.com]

Epidemiology

  • Also, to perform genetic epidemiologic studies of recently identified lipoprotein risk factors for CHD, including Atherogenic Lipoprotein Phenotypes (ALP) based on subclasses of low-density lipoproteins (LDL), Lipoprotein(a) (Lp(a)) and apolipoprotein[clinicaltrials.gov]
  • Subjects With High Triglycerides Completed NCT00134498 Phase 3 torcetrapib/atorvastatin;atorvastatin 4 Effects of FXR Activation on Hepatic Lipid and Glucose Metabolism Completed NCT00465751 Early Phase 1 chenodeoxycholic acid;placebo capsules 5 Genetic Epidemiology[malacards.org]
  • Professor of Neurology, Genetics and Epidemiology. Director, Alzheimer's Disease Clinical and Research Program. Boston University Schools of Medicine and Public Health, Boston, MA. Ian R.A. Mackenzie, MD FRCPC.[labtestsonline.it]
  • Epidemiology and Demographics Prevalence/Incidence It is difficult to accurately estimate the prevalence of HLP V in the general population,although the estimated incidence being Age Average triglyceride levels in type V hyperlipoproteinemia were lower[wikidoc.org]
  • In epidemiologic and interventional studies, hypertriglyceridemia is a risk factor for coronary artery disease (CAD).[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • 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-100[medbullets.com]
  • HETEROZYGOUS: APOA5 gene mutation if present in the heterozygous state, these mutations predispose to hypertriglyceridemia in combination with other genetic factors or pathological conditions. [4] [5] Pathophysiology [6] The two main sources of plasma[wikidoc.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]
  • The pathophysiology of pancreatitis. Nutr. Clin. Pract. 2004, 19, 5–15. [ Google Scholar ] [ CrossRef ] Goldberg, I.J.; Eckel, R.H.; McPherson, R. Triglycerides and heart disease: Still a hypothesis? Arterioscler. Thromb. Vasc.[mdpi.com]
  • Pathophysiology of hypertriglyceridemia. Biochim Biophys Acta. 2012 May. 1821(5):826-32. [Medline].[emedicine.medscape.com]

Prevention

  • Hyperlipoproteinemia type 5 * Liver cirrhosis * Alcoholic liver cirrhosis * Hemochromatosis * Liver abscess * Liver cysts (see Liver symptoms) * Hydatid cyst of the liver * Polycystic liver disease * Hepatic vein thrombosis * Budd-Chiari syndrome * Fatty liver Prevention[checkorphan.org]
  • As type 5 HLP is a genetic disease there is no primary prevention before the presentation.[wikidoc.org]
  • Familial hypercholesterolemia: a missed opportunity in preventive medicine. Nature clinical practice. Cardiovasc Med 2007;4:404-5. Wu NQ, Guo YL, Xu RX, et al.[acc.org]
  • The skin deposits fats or xanthomas Swelling of organs such as the liver, spleen, or pancreas (pancreatitis) Blockage of blood vessels in brain and heart Prevention of Hyperlipidemia Eat a diet low in saturated fats and cholesterol to prevent lipid abnormalities[healthcommunities.com]
  • Shepherd J, Cobbe SM, Ford I, Isles CG, Lorimer AR; MacFarlane PW, McKillop JH, Packard CJ: Prevention of coronary artery disease with pravastatin in men with hypercholesterolemia. West of Scotland Coronary Prevention Study Group.[lipidambulanz.charite.de]

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