Presentation
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]
Entire Body System
- Swelling
Fine needle aspiration cytology done from the swelling over the right achilles tendon revealed fair number of foamy macrophages. [ijpd.in]
Pancreatic swelling with a hypoechoic rim was observed, suggesting acute pancreatitis (Fig. 1). [kjpbt.org]
Injection site reactions included injection site bruising, discolouration, erythema, haematoma, haemorrhage, nodule, induration, inflammation, mass, pain, paraesthesia, pruritus, swelling, vesicles, warmth, scab and rash. [clinicaltrials.gov]
Olive oil is also used to treat jaundice, intestinal gas, and meteorism (swelling of the abdomen due to gas). It is also used to destroy the bacteria that causes some ulcers, helicobacter pylori. [webmd.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]
Gastrointestinal
- 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]
- 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]
Cardiovascular
- Family History of Heart Disease
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]
They occur on your skin. Other signs and symptoms of hyperlipoproteinemia include: Pancreatitis abdominal pain enlarged liver or spleen lipid deposits or xanthomas family history of heart disease family history of diabetes heart attack [slideshare.net]
[…] blood pressure, high LDL ("bad") cholesterol, low HDL ("good") cholesterol, overweight, or with a family history of heart disease). [webmd.com]
Patients with an extensive family history of heart disease should also be screened by measuring Lp(a) levels. 2. [merckmanuals.com]
Skin
- Eruptions
Method : A 61-year-old female patient presented with the type III hyperlipoproteinemia (HLP) in association with generalized eruptive and tuberous xanthomas. [annlabmed.org]
Patients with type IV may present with eruptive xanthomas. [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]
It is also associated with glucose intolerance and hyperuricemia Hyperlipoproteinemia Type 5 Pancreatitis, Eruptive Xanthomas, Adults,< 5% of total Hyperlipoproteinemia Type 5 defective ABCA1 transporter. [memorize.com]
[…] with Type 2 diabetes mellitus Diabetes type 1 with hyperliidemia Diabetes type 2 with hyperlipidemia DM 1 W diabetic hyperlipidemia, mixed DM 1 w diabetic mixed hyperlipidemia DM 2 W diabetic hyperlipidemia, mixed DM 2 w diabetic mixed hyperlipidemia Eruptive [icd9data.com]
- Skin Rash
Side effects may includegastrointestinalsymptoms, myopathy, arrhythmia, skin rashes and gallstones.Fibrates should be avoided in patients with liver and renal dysfunction32. [biomedpharmajournal.org]
Eyes
- 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]
Workup
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]
Serum
- 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]
Establishing a diagnosis enables deeper understanding of prognosis, since prognosis varies between different hypertriglyceridemias. [acc.org]
- Dyslipidemia
DOWNLOAD PDF Recommended Picmonics Hyperlipoproteinemia (Type V Dyslipidemia) Hiker-lip-Mr. [picmonic.com]
Session Title: The Latest on Dyslipidemia Care in the Age of Precision Medicine Abstract Category: 32. Prevention: Clinical Presentation Number: 1129-407 [jacc.org]
Int J Dermatol 58:491–492 Shenoy C, Shenoy MM, Rao GK (2015) Dyslipidemia in Dermatological Disorders. N Am J Med Sci 7:421–428 Schofield JD, Liu Y, Rao-Balakrishna P, Malik RA, Soran H (2016) Diabetes Dyslipidemia. [myendoconsult.com]
Clinical Topics: Diabetes and Cardiometabolic Disease, Dyslipidemia, Homozygous Familial Hypercholesterolemia, Hypertriglyceridemia, Lipid Metabolism, Nonstatins, Primary Hyperlipidemia Keywords: Dyslipidemias, Hyperlipoproteinemia Type III, Apolipoproteins [acc.org]
The dyslipidemia increases risk for developing coronary artery disease but is typically responsive to intensive dietary modification and combination dyslipidemic therapy. References Mahley R.W. Huang Y. Rall Jr, S.C. [amjmed.com]
- Hyperglycemia
Metabolic risk factors Metabolic risk factors contribute to four key metabolic changes that increase the risk of NCDs: raised blood pressure; overweight/obesity; hyperglycemia (high blood glucose levels); and hyperlipidemia (high levels of fat in the [who.int]
Early symptoms are related to hyperglycemia and include polydipsia... read more, smoking cessation Smoking Cessation Most smokers want to quit and have tried doing so with limited success. [merckmanuals.com]
Stroke -Peripheral vascular disease -Intermittent claudication Type IV Autosomal Recessive & Autosomal Dominant Normal or ↑ ↓ Prebeta-HDL ↑ & HDL-C ↓ ↑↑ Clear or Cloudy Normal ↑ -LPL genes (Gly188Glu,Asp9Asn, Asn291Ser,Ser447Ter) -APOA5 -LMF1 -GPIHBP1 Hyperglycemia [wikidoc.org]
- 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]
Treatment
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]
Prognosis
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]
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]
[…] 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]
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.de]
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]
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]
Epidemiology
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]
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]
Epidemiological data refers to the US, unless otherwise specified. [amboss.com]
Pathophysiology
Classification Pathophysiology Clinical features There are typically no specific signs or symptoms. [amboss.com]
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]
"Familial dyslipidaemias: an overview of genetics, pathophysiology and management". Drugs. 66 (15): 1949–69. PMID 17100406. Template:WH Template:WS [wikidoc.org]
Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy. Journal of Clinical Lipidology. 2017;11(1):12-23.e11. Blum CB. [rarediseases.org]
Prevention
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]
Prevention The same heart-healthy lifestyle changes that can lower your cholesterol can help prevent you from having high cholesterol in the first place. [mayoclinic.org]