We describe a large Spanish kindred, living in the Mediterranean Island of Mallorca, that presents a dominant form of hypoalphalipoproteinemia. [ncbi.nlm.nih.gov]

• Splenomegaly

  Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. [berktree.com]

  The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. [hon.ch]

  The disease is characterized by the presence of orange tonsils, peripheral neuropathy, splenomegaly, discoloration of the rectal mucosa, hepatomegaly, opacities, premature CHD, and other abnormalities. [emedicine.com]

  Other clinical features include hepatomegaly, splenomegaly, premature myocardial infarction or stroke, thrombocytopenia, anaemia, and corneal opacities. Figure 1: Clinical symptoms of ABCA1 deficiency (Tangier disease). [cerenis.com]

• Asymptomatic

  Symptoms - Familial Hypoalphalipoproteinemia Some patients remain asymptomatic until advanced adulthood. [checkorphan.org]

  While some patients remain asymptomatic until advanced adulthood, others may present from adolescence with a combination of the following symptoms: blurred vision due to corneal opacities or cataract, tubero-eruptive, tendinous, palmar and/or planar xanthomas [orpha.net]

  […] stenosis, iv) previous myocardial revascularisation - percutaneous coronary intervention (PCI), or coronary artery bypass graft (CABG). - For asymptomatic cardiovascular disease: patients with subclinical atherosclerosis diagnosed using imaging method [clinicaltrialsregister.eu]

  ApoA-I < 70 mg/dL Symptomatic or asymptomatic cardiovascular disease Diagnosis of genetically confirmed HDL-c deficiency due to defects in genes coding for ABCA1 and/or ApoA-1 Stable doses of lipid lowering therapies for at least 6 weeks prior to baseline [clinicaltrials.gov]

  History and Symptoms Age of of symptom onset and age of clinical presentation varies as many patients can remain asymptomatic into adulthood. Majority of patients are diagnosed for the first time with a cardiovascular event at a young age. [wikidoc.org]

• Lymphadenopathy

  Clinical findings Generalised deposits of cholesteryl esters in tonsils and other lymphoid tissues, lymphadenopathy, hepatosplenomegaly, proximal peripheral neuropathy, intermittent diarrhoea, corneal opacification. [medical-dictionary.thefreedictionary.com]

  It may be helpful to know that the affected individual also has additional phenotypes of hepatosplenomegaly, lymphadenopathy, and short stature. [genomeinterpretation.org]

  […] erythematodes cell エリテマトーデス細胞 lupus erythematosus エリテマトーデス/紅斑性狼瘡 lupus nephritis ループス腎炎 LN luteinizing hormone 黄体形成ホルモン LH luteinizing hormone-releasing hormone 黄体形成ホルモン放出ホルモン LH-RH luxatio coxae congenita 先天性股関節脱臼 CDH lymph vessel/lymphatic vessel リンパ管 lymphadenopathy [jpeds.or.jp]

  Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia. An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. [icd10data.com]

• Hepatomegaly

  Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. [berktree.com]

  The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. [hon.ch]

  […] e.g. myocardial infarction, carotid atherosclerosis) Less often Apo A-I deficiency may manifest with neurosensory signs: cerebellar ataxia neurosensory hearing loss proliferative retinopathy or other multi-organ manifestations of systemic amyloidosis: hepatomegaly [checkorphan.org]

  Less often, Apo A-I deficiency may manifest with neurosensory signs (e.g. cerebellar ataxia, neurosensory hearing loss, proliferative retinopathy) or other multi-organ manifestations of secondary amyloidosis (e.g. hepatomegaly, nephropathy, cardiomyopathy [orpha.net]

  The disease is characterized by the presence of orange tonsils, peripheral neuropathy, splenomegaly, discoloration of the rectal mucosa, hepatomegaly, opacities, premature CHD, and other abnormalities. [emedicine.com]

• Corneal Opacity

  HDL catabolism HDL < 10 mg/dL; TGs increased Corneal opacities, anemia, proteinuria, renal insufficiency No Fish-eye disease LCAT deficiency (partial) Autosomal recessive Rapid HDL catabolism HDL < 10 mg/dL; TGs increased Corneal opacities No Tangier [emedicine.com]

  opacity, and peripheral neuropathy; autosomal recessive inheritance. [medical-dictionary.thefreedictionary.com]

  Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Adolescent Corneal Opacity / blood* Erythrocyte Aging Erythrocyte Membrane / enzymology, pathology Erythrocytes, Abnormal / pathology* Female Haptoglobins [biomedsearch.com]

  Disease characterized by abnormally low levels of plasma lecithin cholesterol acyl transferase; clinical manifestations include corneal opacity, anemia, and proteinuria. [icd10data.com]

• Stroke

  Fifteen of the 16 probands were men; 12 were referred because of premature myocardial infarction, angina, or stroke, 2 because of family history of premature myocardial infarction or stroke, and 2 because of low HDLC observed on routine health examinations [ncbi.nlm.nih.gov]

  Treatment Using gemfibrozil to treat hypoalphalipoproteinemia may reduce major cardiovascular events [2] and stroke [3] and in men with known men with known coronary heart disease. [en.citizendium.org]

  […] raising agents, such as peripheral vascular disease, dyslipidemia, hyperbetalipoproteinemia, hypoalphalipoproteinemia, hypercholesterolemia, hypertriglyceridemia, familial hypercholesterolemia, cardiovascular disorders, angina, ischemia, cardiac ischemia, stroke [glosbe.com]

  They are also at high risk for heart disease and stroke. Encourage these people to exercise, attain ideal weight, eliminate wheat and cornstarch: HDL increases 5 mg/dl or so. Add niacin, HDL increases another 5-10 mg/dl. [cureality.com]

• Hypertriglyceridemia

  Inborn error of lipid metabolism : dyslipidemia ( E78, 272.0–272.6 ) Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined [ipfs.io]

  […] role in preventing, ameliorating, or correcting dysfunctions or diseases including, but not limited to, cancer, CNS disorders, COPD, obesity, diabetes, and cardiovascular disorders, particularly dyslipidemia leading to arteriosclerosis and especially hypertriglyceridemia [glosbe.com]

  Other forms are primary hypoalphalipoproteinemia of unknown cause, while the remaining cases are associated with hypertriglyceridemia with or without elevated apoB levels. [ncbi.nlm.nih.gov]

  Low HDL cholesterol [HR = 11,059 (3.559, 34.610) p < 0.01], was present in 67.9 % of women and hypertriglyceridemia [HR = 15.53 (4.975, 48.513) p < 0.01] was present in 60.5 % of men. the results suggested that hypertriglyceridemia and hypoalphalipoproteinemia [ipn.elsevierpure.com]

• Enlargement of the Liver

  There also may be enlarged lymph nodes, liver, and spleen; muscle atrophy; and peripheral neuropathy. No specific treatment is known. [medical-dictionary.thefreedictionary.com]

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]

Drug treatments / 002B02N General and cellular metabolism. [pascal-francis.inist.fr]

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]

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]

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]

Prognosis depends on occurrence of premature CVD and end-stage organ failure in individuals with amyloidosis. [wikidoc.org]

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]

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]

However, the etiology of the low levels of HDL is unclear for most of the remaining familial HAs. [emedicine.medscape.com]

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]

Summary Epidemiology Prevalence of Apo A-I deficiency is unknown. The disease has been described in about 30 families. [orpha.net]

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]

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]

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]

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]