Method : A 61-year-old female patient presented with the type III hyperlipoproteinemia (HLP) in association with generalized eruptive and tuberous xanthomas. [annlabmed.org]

This mode of presentation differed from that of the Xhosa-speaking black homozygotes, who presented with cutaneous lipid deposits but no IHD. [ahajournals.org]

In this disorder, which manifests in adulthood, increased blood cholesterol and triglycerides are present due to an… Read More [britannica.com]

Abnormal glucose tolerance was present in approximately one third of Types II and III, one half of Type IV and 80 per cent of Type V patients. [diabetes.diabetesjournals.org]

Multiple, asymptomatic, firm, smooth subcutaneous swellings along the achilles tendons on both the sides and on medial aspect of bilateral great toes were also present [Figure 1]. Arcus juvenilis was present in bilateral eyes. [ijpd.in]

• Splenomegaly

  Eye fundus examination found lipemia retinalis, and abdominal palpation revealed hepatomegaly with no splenomegaly. [elsevier.es]

• Inflammation

  Symptoms may include: yellowish lipid-filled bumps on the skin (xanthomas), inflammation of the pancreas (pancreatitis), and a buildup of fat in the blood vessels (atherosclerosis). [rareguru.com]

  Some may develop hepatosplenomegaly (abnormally enlarged liver or spleen) or pancreatitis (inflammation of the pancreas). References: Mozaffarian D, Benjamin EJ, Go AS, et al. (2015). [cardiovasculardna.com]

  […] fat, refined sugars or alcohol), metabolic (e.g. diabetes, metabolic syndrome, non-alcoholic steato-hepatitis, nephropathy), and hormonal (e.g. hypothyroidism, polycystic ovary syndrome, pregnancy) factors may aggravate the disease, as well as chronic inflammation [orpha.net]

  Symptoms - Hyperlipoproteinemia type 1 Causes - Hyperlipoproteinemia type 1 Buerger’s disease is caused by vasculitis, an inflammation of blood vessels, primarily of the hands and feet. [checkorphan.org]

• Intermittent Claudication

  Complications may include: Heart attack Stroke Peripheral vascular disease Intermittent claudication Gangrene of the lower extremities Call your provider if you have been diagnosed with this disorder and: New symptoms develop. [medlineplus.gov]

  Natural History, Complication, Prognosis Natural History If left untreated, dysbetalipoproteinemia can lead to chronic pancreatitis, atherosclerosis, stroke, and intermittent claudication. [wikidoc.org]

  For the past 6 mo, he experienced symptoms that suggested intermittent claudication. A Doppler ultrasonic study revealed mild stenosis of left femoral artery. [ncbi.nlm.nih.gov]

  Mild PAD may be asymptomatic or cause intermittent claudication; severe PAD... read more presumed caused by atherosclerosis Atherosclerosis Atherosclerosis is characterized by patchy intimal plaques (atheromas) that encroach on the lumen of medium-sized [merckmanuals.com]

• Coronary Atherosclerosis

  She had hypercholesterolemia and hypertriglyceridemia, and extensive coronary atherosclerosis. [annlabmed.org]

  Beneficial effects of combined colestipol-niacin therapy on coronary atherosclerosis and coronary venous bypass grafts. [mdpi.com]

  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. [bjcardio.co.uk]

• Abdominal Pain

  After 5 days, the patient’s abdominal pain improved, and she could begin to eat again. After starting to eat again, the patient had no abdominal pain, and her amylase and lipase levels improved to 88 U/L and 33 IU/L, respectively. [kjpbt.org]

  […] vessels ) Unwell Xantoma papular or eruptive ( cutaneous fat deposition in yellow pink ) at a point that is pressed and extensor surfaces Recurrent attacks of severe abdominal pain resembling pancreatitis usually preceded by the entry of fat into the [healthout.blogspot.com]

  After two years of treatment with ciprofibrate, the patient had not experienced new episodes of abdominal pain or new eruptive xanthomas. [elsevier.es]

  Other signs and symptoms of hyperlipoproteinemia include: pancreatitis (type 1) abdominal pain (types 1 and 5) enlarged liver or spleen (type 1) lipid deposits or xanthomas (type 1) family history of heart disease (types 2 and 4) family history of diabetes [healthline.com]

  Abstract Objectives Type 1 hyperlipoproteinemia is an autosomal recessive disorder characterized by severely elevated plasma triglyceride levels, which may lead to abdominal pain and pancreatitis, eruptive xanthomas and failure to thrive. [atherosclerosis-journal.com]

• Diarrhea

  Autosomal Recessive Defect in intestine A-beta-lipoproteinemia Bassen-Kornzweig Syndrome No LDL, VLDL, & Chylomicrons Low Cholesterol & TG Burr cells (acanthocytes) A-beta-lipoproteinemia Bassen-Kornzweig Syndrome Burr cells (acanthocytes) Failure to thrive Diarrhea [memorize.com]

  Chronic pancreatitis may result in back pain, diarrhea, yellow-colored skin (jaundice), and potentially the development of diabetes. [rarediseases.org]

• Recurrent Abdominal Pain

  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]

• Vascular Disease

  Oxygen and blood flow can be partially or totally blocked, resulting in cardiovascular disease or peripheral vascular disease. [cardiovasculardna.com]

  People with this condition have a significantly increased risk for coronary artery disease and peripheral vascular disease. With treatment, most people are able to greatly reduce their levels of cholesterol and triglycerides. [medlineplus.gov]

  […] to Renal Failure Prognosis Patients with dysbetalipoproteinemia have an increased risk for coronary artery disease and peripheral vascular disease. [wikidoc.org]

  In patients with clinically evident vascular disease, LDL levels should be less than 100 mg per dL (2.60 mmol per L), and triglycerides should be less than 150 mg per dL (1.70 mmol per L). [aafp.org]

  Type III/*epidemiology/*genetics, Male, Menopause/physiology, Middle aged, Netherlands/epidemiology, Peripheral Vascular Diseases/epidemiology, Prevalence, Regression Analysis, Research Support, Non-U.S. [repub.eur.nl]

• Chest Pain

  The disease leads to premature atherosclerosis and therefore a possible early onset of coronary artery disease and peripheral vascular disease leading to a heart attack, i.e. myocardial infarction, chest pain on exercise, i.e. angina pectoris or stroke [en.wikipedia.org]

  When an obstruction occurs in the blood vessels of the heart (coronary), it can cause chest pain and heart attacks In the body, the lipids get deposited in the skin, underneath the skin (subcutaneous) and in the tendons. [dovemed.com]

  Other symptoms may include: Chest pain (angina) or other signs of coronary artery disease may be present at a young age Cramping of one or both calves when walking Sores on the toes that do not heal Sudden stroke-like symptoms such as trouble speaking [medlineplus.gov]

  These deposits (plaques) can reduce blood flow through your arteries, which can cause complications, such as: Chest pain. [mayoclinic.org]

• 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]

  Some may develop hepatosplenomegaly (abnormally enlarged liver or spleen) or pancreatitis (inflammation of the pancreas). References: Mozaffarian D, Benjamin EJ, Go AS, et al. (2015). [cardiovasculardna.com]

  Clinical features include eruptive xanthomas, lipemia retinalis, and hepatosplenomegaly [10]. [myendoconsult.com]

  The disease is characterized by atherosclerosis, hepatosplenomegaly, polyneuropathy and orange tonsils. *phew* That's all! [medicowesome.com]

  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]

• Jaundice

  Chronic pancreatitis may result in back pain, diarrhea, yellow-colored skin (jaundice), and potentially the development of diabetes. [rarediseases.org]

• Hepatomegaly

  Sensitive hepatomegaly can also be observed. Patients progressively develop atherosclerosis that can lead to cardiovascular disease (stroke, coronary artery disease with myocardial infarction, lower limb arteriopathy) before the age of 50. [orpha.net]

  An abdominal ultrasound examination confirmed hepatomegaly. [elsevier.es]

  […] concentration Increased circulating LDL level Increased LDL cholesterol [ more ] 0003141 30%-79% of people have these symptoms Corneal arcus 0001084 Diabetes mellitus 0000819 Hepatic steatosis Fatty infiltration of liver Fatty liver [ more ] 0001397 Hepatomegaly [rarediseases.info.nih.gov]

• Back Pain

  Chronic pancreatitis may result in back pain, diarrhea, yellow-colored skin (jaundice), and potentially the development of diabetes. [rarediseases.org]

• Xanthoma

  Keywords : Type III hyperlipoproteinemia, Apolipoprotein E, apo e2/e2, Xanthoma [annlabmed.org]

  Symptoms may include xanthomas, atherosclerosis and cardiovascular disease. Xanthomas High levels of lipids in blood can result in deposits of fatty material in the skin. [cardiovasculardna.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]

  Clinical signs that may appear during adulthood are xanthomas of the eyelids (i.e. xanthelasma), transient xanthomas on palms (i.e. planar palmar xanthomas) or tuberous xanthomas over elbows or knees. Sensitive hepatomegaly can also be observed. [orpha.net]

  Histopathologically numerous xanthoma cells were found in whole dermis. Electronmicroscopically cytoplasm of these xanthoma cells contained many lipid vacuoles. [petit.lib.yamaguchi-u.ac.jp]

• Papule

  : A 12-year-old Japanese girl had developed semispherical papules, which were slightly yellowish and brownish in color had been increasing in size and number for these 10 years. [petit.lib.yamaguchi-u.ac.jp]

  These deposits are called xanthomas, and they can appear in forms of papules (multiple yellowish bumps) or plaques on the skin. – Xanthomas striata palmaris (found on palm of hands, observed only in people with Type III hyperlipoproteinemia) – Tendon [cardiovasculardna.com]

  Eruptive skin xanthomas are small, erythematous-yellow nodular papules mostly seen on the buttocks, trunk, and extensor surfaces. This clinical feature is associated with chylomicronemia and occurs due to lipid deposition in the skin. [picmonic.com]

  Eruptive xanthomata are multiple, reddish-yellow papules that appear suddenly and are arranged in crops on the extensor surface of the extremities and the buttocks. [ijpd.in]

  The lesions typically erupt as crops of small, red-yellow papules on an erythematous base, and they may spontaneously resolve over weeks. [namrata.co]

• Lipemia Retinalis

  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]

  Clinical features include eruptive xanthomas, lipemia retinalis, and hepatosplenomegaly [10]. [myendoconsult.com]

  Eye fundus examination found lipemia retinalis, and abdominal palpation revealed hepatomegaly with no splenomegaly. [elsevier.es]

  retinalis Description: opaque, white appearance of the retinal vessels, visible on fundoscopic exam Associated condition: hyperlipoproteinemia type I, III, and IV Arcus lipoides corneae Gastrointestinal manifestations Fatty liver (hepatic steatosis): [amboss.com]

  Complications include retinal vein occlusion, acute pancreatitis, steatosis, and organomegaly, and lipemia retinalis. [en.wikipedia.org]

• Arcus Senilis

  In contrast to FH, tendon xanthomas and arcus senilis may be absent in patients with defective apoprotein B-100. [emedicine.medscape.com]

  Senilis, Breast Neoplasms, Cardiovascular Diseases, Cholesterol, Cholesterol, LDL, Cholesterol, HDL, Coronary Disease, Counseling, DNA, Early Diagnosis, Epigenesis, Genetic, Gene Dosage, Genetic Testing, Hyperlipoproteinemia Type I, Hyperlipoproteinemia [acc.org]

  senilis, tendon xanthomas Bile acid sequestrants, statins, niacin Clear One in 500 for heterozygotes b 144250 Familial combined hyperlipidemia Decreased LDL receptor and increased ApoB LDL and VLDL Statins, niacin, fibrate Turbid One in 100 Type III [en.wikipedia.org]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Recent genetic and molecular studies suggest more genes than previously appreciated may contribute to the expression of HLP3, both through impaired hepatic TGRL processing or removal and increased TGRL production. [ncbi.nlm.nih.gov]

  Its persistence was suggested by the relative prominence of Sf12-100 lipoproteins, the cholesterol-rich composition of VLDL subfractions and of chylomicrons persisting late after an orally administered fat load, the preponderance of slower-migrating lipoproteins [jamanetwork.com]

  When the plasma triglyceride concentration is between 150 and 1000 mg/100 ml, an r not less than 0.25 should be considered as suggestive and a value not less than 0.30 as diagnostic of type III hyperlipoproteinemia. FULL TEXT [annals.org]

• Seizure

  Less common clinical features include intestinal bleeding, pallor, anemia, irritability, diarrhea, seizures and encephalopathy [ 10, 11 ]. [mdpi.com]

Dysbetalipoproteinemia Workup. Medscape Reference. Available online at http://emedicine.medscape.com/article/118466-workup. Accessed October 2013. (2007) Bennet A, et al. Association of apolipoprotein E genotypes with lipid levels and coronary risk. [labtestsonline.it]

[…] patients with type 1 and V hyperlipoproteinemia (HLP) present with symptoms and signs of acute pancreatitis due to marked elevation of triglycerides, but this baby presented with a chest infection, which was later diagnosed as type V HLP on laboratory workup [bmcendocrdisord.biomedcentral.com]

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]

Secondary causes of hyperlipoproteinemia are more common and workup must be targeted at excluding them prior to evaluating primary causes. [wikidoc.org]

See Workup for more detail. [emedicine.medscape.com]

• Enlargement of the Liver

  It can cause abdominal pain, repeated infections of the pancreas, and enlargement of the liver and spleen. Sometimes, this is referred to as familial LPL deficiency, and it is an inherited condition that disrupts the normal breakdown of fats. [medicalnewstoday.com]

• Hypertriglyceridemia

  Four hundred and forty normals, 637 patients with hypertriglyceridemia, and 714 with hypertriglyceridemia and hypercholesterolemia were studied. [unboundmedicine.com]

  She had hypercholesterolemia and hypertriglyceridemia, and extensive coronary atherosclerosis. [annlabmed.org]

  In children, hypertriglyceridemia is defined as plasma triglyceride levels above the 95th percentile for age and sex, and HLP-1 is the best example of severe hypertriglyceridemia.3 HLP-1 is a disorder of autosomal recessive inheritance, and the screening [elsevier.es]

• 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]

• Triglycerides Elevated

  Fredrickson Classification of Hyperlipidemia (Open Table in a new window) Type Serum Elevation Lipoprotein Elevation I Cholesterol and triglycerides Chylomicrons IIa Cholesterol LDL IIb Cholesterol and triglycerides LDL, VLDL III Cholesterol and triglycerides [emedicine.medscape.com]

After treatment of the diabetic coma, the electrophoretic pattern changed from type 3 to 4 and then to 2a. [jstage.jst.go.jp]

Management and treatment Treatment includes a diet poor in saturated fat, exercise, and lipid-lowering drugs (e.g. fibrates, statins) and is usually sufficient for complete regression of the disease within a few months. [orpha.net]

Has a currently accepted medical use in treatment in the United States or a currently accepted medical use with severe restrictions. [drugs.com]

Symptoms do not improve with treatment. Symptoms get worse. Screening the family members of people with this condition may lead to early detection and treatment. [medlineplus.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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

Establishing a diagnosis enables deeper understanding of prognosis, since prognosis varies between different hypertriglyceridemias. [acc.org]

[…] 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]

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]

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.de]

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]

From More Specific Terms familial combined hyperlipidemia Etiology familial form ( familial combined hyperlipidemia ) defect in LDL receptor Laboratory increase in LDL cholesterol serum triglycerides are increased VLDL is increased apo E genotyping may [anvita.info]

Etiology The disease results from mutations in the APOE gene (19q13.31) encoding apolipoprotein E, a protein involved in the cellular uptake of triglyceride-rich lipoprotein remnants (i.e., IDLs with roughly equal amounts of cholesterol and triglycerides [orpha.net]

Type III/*epidemiology/*genetics, Male, Menopause/physiology, Middle aged, Netherlands/epidemiology, Peripheral Vascular Diseases/epidemiology, Prevalence, Regression Analysis, Research Support, Non-U.S. [repub.eur.nl]

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]

Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

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]

Classification Pathophysiology Clinical features There are typically no specific signs or symptoms. [amboss.com]

"Familial dyslipidaemias: an overview of genetics, pathophysiology and management". Drugs. 66 (15): 1949–69. PMID 17100406. Template:WH Template:WS [wikidoc.org]

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]

Pathophysiologic mechanisms for the various types of hyperlipidemia? A detailed review of a classification system for the various pathophysiologic defects in hyperlipidemia. [myendoconsult.com]

Biochemistry and pathophysiology of intravascular and intracellular lipolysis. Genes Dev. 2013; 27: 459-484 Pennacchio L.A. Oliver M. Hubacek J.A. et al. [atherosclerosis-journal.com]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.de]

Secondary prevention Intensity of statin therapy in primary and secondary prevention Safety Recommendations Guideline on Lifestyle Management Editor-In-Chief: C. [wikidoc.org]

In 2019, the World Health Assembly extended the WHO Global action plan for the prevention and control of NCDs 2013–2020 to 2030 and called for the development of an Implementation Roadmap 2023 to 2030 to accelerate progress on preventing and controlling [who.int]

The normal ApoE turns into the defective ApoE2 form due to a genetic mutation.[4] This defect prevents the normal metabolism of chylomicrons, IDL and VLDL, otherwise known as remnants, and therefore leads to accumulation of cholesterol within scavenger [en.wikipedia.org]