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Hypoalphalipoproteinemia


Presentation

  • We describe a large Spanish kindred, living in the Mediterranean Island of Mallorca, that presents a dominant form of hypoalphalipoproteinemia.[ncbi.nlm.nih.gov]
Hunting
  • Kort EN 1 , Ballinger DG , Ding W , Hunt SC , Bowen BR , Abkevich V , Bulka K , Campbell B , Capener C , Gutin A , Harshman K , McDermott M , Thorne T , Wang H , Wardell B , Wong J , Hopkins PN , Skolnick M , Samuels M .[ncbi.nlm.nih.gov]
  • Am J Epidemiol 2002; 156:919–928. 13 Hunt KJ, Resendez RG, Williams K, et al.[journals.lww.com]
Chronic Infection
Abdominal Obesity
  • Metabolic syndrome is diagnosed in patients with at least 3 of the following risk factors: Abdominal obesity, with a waist circumference of over 35 inches (females) or above 40 inches (males) TG levels of 15 mg/dL or greater HDL cholesterol levels of[emedicine.medscape.com]
Left Ventricular Dysfunction
  • These may include the following: Tendon xanthomas Cutaneous xanthomas Findings of ischemic coronary heart disease or peripheral vascular disease S 4 gallop consistent with ischemic left ventricular dysfunction Signs of congestive heart failure, such as[emedicine.medscape.com]
Suggestibility
  • The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.[ncbi.nlm.nih.gov]
Neglect
  • When the significant multifactorial background is neglected, we also find evidence for the invalid claim of a dominant gene. This demonstrates the necessity of using mixed models for determining the mode of inheritance of a given phenotype.[ncbi.nlm.nih.gov]

Workup

Mural Thrombus
  • In the histopathological investigation of this mass lesion, symptoms of complicated atherosclerosis, such as mural thrombus and diffused calcification, were observed.[ncbi.nlm.nih.gov]
Chlamydia
  • The prevalence of herpes simplex virus type 1, cytomegalovirus, Chlamydia pneumoniae , and Helicobacter pylori infections did not differ between the 2 groups.[ncbi.nlm.nih.gov]
Amyloid Plaque
  • Certain other APOA1 mutations have been found in association with systemic amyloidosis, and the mutant APOA1 gene has been located within the amyloid plaque.[emedicine.com]

Treatment

  • Benzo(a)pyrene treatment also suppressed apo A-I mRNA and gene promoter activity. Treatment of HepG2 cells with the AhR receptor antagonist CAY10464 reversed the suppressive effect of BaP on apo A-I gene expression.[ncbi.nlm.nih.gov]
  • After 12 week treatment, the prevalence decreased to 12%, 20% and 18% in low risk, high risk and CHD patients respectively.[mji.ui.ac.id]

Prognosis

  • Prognosis Usually benign, rarely coronary heart disease.[medical-dictionary.thefreedictionary.com]
  • Prognosis - Familial Hypoalphalipoproteinemia Prognosis depends on the occurrence of premature CHD and end-stage organ failure in cases with signs of amyloidosis. Treatment - Familial Hypoalphalipoproteinemia To date, there is no curative therapy.[checkorphan.org]
  • Methods for diagnosis and/or prognosis of cardiovascular diseases, especially hypoalphalipoproteinemia, relying on identification of the presence or absence of this Leu178 m(b)Pro mutation.[glosbe.com]
  • Regular cardiovascular monitoring should be offered to Apo AI deficient patients with extremely low HDL cholesterol ( Prognosis Prognosis depends on the occurrence of premature CHD and end-stage organ failure in cases with signs of amyloidosis.[orpha.net]
  • Prognosis depends on occurrence of premature CVD and end-stage organ failure in individuals with amyloidosis.[wikidoc.org]

Etiology

  • The etiology of HDL deficiencies ranges from secondary causes, such as smoking, to specific genetic mutations, such as Tangier disease and fish eye disease.[diagene.ch]
  • Etiology The disease is due to various deletions and mutations of the APOA1 gene (11q23-q24), encoding the apo A-I protein, a major constituent of HDL, that lead to decreased apo A-I production, impaired function or increased apo A-I catabolism.[orpha.net]
  • The underlying etiology for all clinical phenotypes of ABCA1 deficiency is the imbalance in cholesterol metabolism.[cerenis.com]
  • However, the etiology of the low levels of HDL is unclear for most of the remaining familial HAs.[emedicine.medscape.com]
  • A number of etiologies, often metabolic, can underlie a reduced circulating level of cholesterol in the HDL fraction, for example diabetes, Metabolic Syndrome, obesity, and lack of physical activity (thus called secondary hypoAlphalipoproteinemia).[businesswire.com]

Epidemiology

  • A careful joint analysis of epidemiological data that demonstrates the epidemiological transition that is occurring in México. 36 Rodriguez C, Pablos-Méndez A, Palmas W, et al.[journals.lww.com]
  • There is no epidemiological data on the prevalence low HDL-C level in dyslipidemia patients and the results of treatment on HDL-C on a large number of patients in Indonesia.[mji.ui.ac.id]
  • Annals of Epidemiology, 18 (3), 165–171. PubMed CrossRef 18. Park, S. S., Yoon, Y. S., & Oh, S. W. (2011). Health-related quality of life in metabolic syndrome: The Korea National Health and Nutrition Examination Survey 2005.[mijn.bsl.nl]
  • Summary Epidemiology Prevalence of Apo A-I deficiency is unknown. The disease has been described in about 30 families.[orpha.net]
  • Keywords Intronic Region Aberrant Splice Splice Defect Lecithin Cholesterol Acyl Transferase Premature Coronary Heart Disease Background Epidemiologic studies have demonstrated an inverse association between high-density lipoprotein cholesterol (HDL-C[bmcmedgenet.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • The mechanism of action of statins does not directly target this pathophysiology in these patients with FPHA; as a result the benefit derived from statins will be at best indirect and incomplete.[businesswire.com]
  • The key pathophysiological mechanism of FPHA is therefore that the genetically inadequate removal/elimination capacity of the defective HDL pathway is easily overwhelmed by even a relatively normal delivery of cholesterol by the LDL pathway, leading to[cerenis.com]
  • Pathophysiology Reverse Cholesterol Transport [33] HDL C is synthesized and secreted from the liver as nascent very small discoid pre-β-1 HDL, predominantly composed of apolipoprotein A1.[wikidoc.org]
  • However, the pathophysiological mechanism by which the majority of the genes and loci are linked with variations in HDL cholesterol levels remain unknown.[journals.lww.com]

Prevention

  • Example sentences with "hypoalphalipoproteinemia", translation memory The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including but not limited[glosbe.com]
  • "Simvastatin and niacin, antioxidant vitamins, or the combination for the prevention of coronary disease". N. Engl. J. Med. 345 (22): 1583–92. PMID 11757504. [ e ][en.citizendium.org]
  • To date, no treatment has been found to prevent the progression of this disease, including trials of omega-3-fatty acids, antioxidants, and vitamin E.[xpertdox.com]
  • In this volume, which contains 59 chapters, an internationally recognized group of authors con tribute up-to-date accounts of molecular and cellular processes occurring in the vessel wall in atherogenesis and describe approaches to the prevention and[books.google.com]
  • Blocking CETP prevents the transfer of cholesterol from HDL2 to the apo B–containing lipoproteins, and therefore, the HDL concentration in terms of cholesterol rises.[emedicine.medscape.com]

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