Two populations of LDL were present, ApoB-70.5 was primarily associated with LDL particles of higher density and of smaller size than the LDL particles containing apoB-100. [ncbi.nlm.nih.gov]

• Orthopnea

  A 55-year-old Japanese woman with familial hypobetalipoproteinemia associated with hypothyroidism was admitted to the hospital because of orthopnea and congestive heart failure. [ncbi.nlm.nih.gov]

Heterozygotes are usually identified in adulthood after routine blood work, lipid screening, or a workup for gastrointestinal (GI) or neurologic disorders. Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. [emedicine.com]

Follow-up includes monitoring for ophthalmologic, neurologic, hematologic, and hepatic complications, as well as compliance with treatment. [ncbi.nlm.nih.gov]

Treatment of secondary hypolipidemia involves treating underlying disorders. [merckmanuals.com]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Prognosis is variable, but early diagnosis and strict adherence to treatment can recover normal neurological function and halt disease progression. [ncbi.nlm.nih.gov]

Early treatment with high dose vitamin E may improve the prognosis. Click here for Patient Education [merckmanuals.com]

The long-term outlook ( prognosis ) for people with familial hypobetalipoproteinemia (FHBL) can vary considerably. [rarediseases.info.nih.gov]

The patient was educated about the diagnosis and prognosis and was placed back on the regimen of fish oil and fenofibrate, 160 mg daily. [consultant360.com]

[…] diseases is as follows: [23] Prevalence Abetalipoproteinemia Familial Hypobetalipoproteinemia 1:1000 – 1:3000 Chylomicron Retention Disease Very rare Familial Combined Hypolipidemia Very rare PCSK9 Deficiency Very rare Natural History, complications and Prognosis [wikidoc.org]

Although rare, a- and hypobetalipoproteinemia should be considered as possible etiologies in patients with unexplained steatosis in the liver. [ncbi.nlm.nih.gov]

One of our aims is to find the etiologic gene in the region by positional cloning, using DHPLC (Transgenic Wave) technology and genomic DNA sequencing for mutation detection. [grantome.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

[…] familial ligand defective APO-B (receptor binding defective LDL) and/or myocardial infarction susceptibility with an insertion/deletion polymorphism in the signal peptide Relevant External Links for APOB Genetic Association Database (GAD) APOB Human Genome Epidemiology [genecards.org]

Worldwide racial and ethnic distribution of α1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. [clinchem.aaccjnls.org]

[…] increased lipoprotien lipase activity. [15] Causes The following are the list of causes of primary hypobetalipoproteinemia: Abetalipoproteinemia Familial hypobetalipoproteinemia Chylomicron retention disease PCSK9 deficiency Familial combined hypolipidemia Epidemiology [wikidoc.org]

Epidemiology Frequency United States Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are rare inborn errors of lipoprotein metabolism. ABL occurs in less than 1 in 1 million persons. [emedicine.com]

We review the genetics and pathophysiology of familial hypobetalipoproteinemia (FHBL), a mildly symptomatic genetically heterogeneous autosomal trait. [ncbi.nlm.nih.gov]

Louis, MO 63110 1 To whom correspondence should be addressed. e-mail: gschonfe{at}im.wustl.edu Abstract We review the genetics and pathophysiology of familial hypobetalipoproteinemia (FHBL), a mildly symptomatic genetically heterogeneous autosomal trait [doi.org]

[…] hypertriglyceridemia, type III hyperlipoproteinemia/dysbetalipoproteinemia, or when an accurate gold standard determination of LDL-C is required Diagnosis of familial hypobetalipoproteinemia and abetalipoproteinemia Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

1989 described chylomicron retention disease. [3] In 2003, the mutation in SAR1B gene was identified by jones. [4] Conklin identified the ANGPTL3 gene in 1999 and its function of inhibiting lipoprotein lipase was established in 2013 by Arca. [5] [6] Pathophysiology [wikidoc.org]

Coverage begins with a review of risk factors and prevention, emphasizing lipid abnormalities, hypertension, smoking, diabetes, and obesity. [books.google.de]

A framework for the clinical follow-up and management of these two disorders has been proposed recently, focusing on monitoring of growth in children and preventing complications by providing specialized dietary advice and fat-soluble vitamin therapeutic [ncbi.nlm.nih.gov]

Prevention Primary Prevention As the set of the diseases are rare there are no primary preventive measures. [wikidoc.org]

To prevent the neurologic manifestations that occasionally occur with FHBL, heterozygous patients receive modest supplementation with vitamin E. [emedicine.medscape.com]