Homozygotes presented markedly decreased HDL cholesterol levels, undetectable plasma apoA-1, tuboeruptive and planar xanthomas, mild corneal arcus and opacification, and severe premature coronary artery disease. [ncbi.nlm.nih.gov]

Distinguishing features of homozygous patients with very low or undetectable HDL C and Apo A1 [47] : Apo A/CIII/A-IV Deficiency ApoA/CIII Deficiency Apo A Deficiency Planar Xanthomas Absent Present Present Tubo-Eruptive Xanthomas Absent Absent Present [wikidoc.org]

Clinical description Although extremely low plasma HDL cholesterol may be detected in any patient fortuitously from birth, the age of symptom onset and the clinical presentation varies greatly. [orpha.net]

• Lymphadenopathy

  Apolipoprotein A-I deficiency » Symptoms List: Apolipoprotein A-I deficiency Symptoms and clinical features may include: 2 Clinical Features of Apolipoprotein A-I deficiency : Blurred vision Xanthomatosis Abnormality of the liver Splenomegaly Anemia Lymphadenopathy [familydiagnosis.com]

  Tangier disease is characterised by low levels of HDL, apolipoprotein A-1 and LDL, mild hypertriglyceridaemia and cholesterol ester deposition in the tonsils (orange tonsils), liver (hepatomegaly), spleen (splenomegaly), lymph nodes (lymphadenopathy), [bjo.bmj.com]

  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]

• Congestive Heart Failure

  Congestive heart failure Peripheral vascular disease - History of claudication Cerebrovascular disease History of stroke History of transient ischemic attack History of carotid endarterectomy Less common symptoms in Apo A1 deficiency include: Ataxia Hearing [wikidoc.org]

• Tonsillar Hypertrophy

  The patient had corneal opacity, but neither xanthomas, xanthelasma, nor tonsillar hypertrophy. She was not symptomatic for coronary heart disease (CHD), and had normal electrocardiograms at rest and exercise using a cycle ergometer. [ncbi.nlm.nih.gov]

  On physical examination, she had bilateral xanthomas of the eyelids and focal yellow skin discolorations in the cubital fossae of both forearms, but there was no tonsillar hypertrophy or Achilles tendon xanthoma. [bmcophthalmol.biomedcentral.com]

• Corneal Opacity

  Histopathological evaluations of affected corneas are not enough, and the mechanism of corneal opacity is still unclear. Case presentation A 61-year-old woman suffered from blurred vision with a corneal opacity. [bmcophthalmol.biomedcentral.com]

  CONCLUSIONS: Myriad lipid droplets in the extracellular matrix in the corneal stroma induce diffuse corneal opacity in a patient with apoA-I deficiency. [ncbi.nlm.nih.gov]

  Clinical Features Annular corneal opacity Anaemia Progressive renal disease with proteinuria Corneal opacities only Normal renal function Large yellow-orange tonsils Dense central corneal opacity Relapsing and remitting course of neuropathy Asymptomatic [wikidoc.org]

• Blurred Vision

  More on Apolipoprotein A-I deficiency » Symptoms List: Apolipoprotein A-I deficiency Symptoms and clinical features may include: 2 Clinical Features of Apolipoprotein A-I deficiency : Blurred vision Xanthomatosis Abnormality of the liver Splenomegaly [familydiagnosis.com]

  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 xanthelasmas premature coronary heart disease (CHD) (e.g. [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]

• Arcus Senilis

  In the periphery the denser deposition resembles arcus senilis. Apo A-1 deficiency was confirmed by serum analysis measures, which in our patient was 0.15 g/l (normal 1.1–2.0). [bjo.bmj.com]

  On eye examination he had significant arcus senilis. His pulses were present throughout, but somewhat diminished. He had no evidence of hepatosplenomegaly or xanthomas. [endocrine.org]

• Corneal Deposit

  Slit lamp appearance: showing increased corneal deposits. Blood pressure was 120/70. Fasting blood samples were taken for lipids, plasma protein, thyroid function, immunoglobulins, VDRL, FBC, ESR, and IEPG. [bjo.bmj.com]

• Xanthelasma

  The patient had corneal opacity, but neither xanthomas, xanthelasma, nor tonsillar hypertrophy. She was not symptomatic for coronary heart disease (CHD), and had normal electrocardiograms at rest and exercise using a cycle ergometer. [ncbi.nlm.nih.gov]

  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 xanthelasmas premature coronary heart disease (CHD) (e.g. [checkorphan.org]

  […] 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, xanthelasmas [orpha.net]

• Skin Lesion

  Histological examination of skin lesions reveals numerous foam cells. Diagnosis is confirmed by genetic testing. [checkorphan.org]

• Skin Rash

  Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. [genecards.org]

• Skin Discoloration

  On physical examination, she had bilateral xanthomas of the eyelids and focal yellow skin discolorations in the cubital fossae of both forearms, but there was no tonsillar hypertrophy or Achilles tendon xanthoma. [bmcophthalmol.biomedcentral.com]

• Cerebellar Ataxia

  ataxia neurosensory hearing loss proliferative retinopathy or other multi-organ manifestations of systemic amyloidosis: hepatomegaly nephropathy cardiomyopathy - all potentially progressing into end-stage organ failure (liver, renal or cardiac failure [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]

• Nephrolithiasis

  Fibrinogen alpha chain precursor and apolipoprotein a-I in urine as biomarkers for noninvasive diagnosis of calcium oxalate nephrolithiasis: a proteomics study. Biomed Res Int. 2014. 2014:415651. [Medline]. [Full Text]. [emedicine.medscape.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Treatment In experimental rodents, treatment with either endostatin or TNP-470 leads to dramatic reductions in the size of atherosclerotic lesions. apolipoprotein E deficiency A rare cause of type III hyperlipoproteinemia, caused by specific mutations [medical-dictionary.thefreedictionary.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

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]

The results of many epidemiological studies show that decreased HDL-C concentrations, especially in combination with elevated LDL-C (LDL/HDL ratio 3.5), represent a risk for coronary heart disease. [medical-genetics.de]

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

[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.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]

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 of Triglyceride-Rich Lipoproteins in Atherothrombosis: Cellular Aspects. Clin. Cardiol. 22, (Suppl. 11) 11-7-11-14 [On-line Journal]. PDF available for download at through . Blanchear, M. (2000 April 22). [labtestsonline.it]

[…] apolipoprotein E deficiency A rare form of type-III hyperlipoproteinaemia (OMIM:107741) caused by a mutation of APOE on chromosome 19q13.32, which prevents binding of chylomicrons and VLDL to the LDL receptor. [medical-dictionary.thefreedictionary.com]

Here we demonstrate that apoA-I in lipidated or non-lipidated form prevents the formation of high molecular weight aggregates of Aβ(42) and decreases Aβ(42) toxicity in primary brain cells. [ncbi.nlm.nih.gov]

Her high LDL level (6.0 mmol/l normal 1.7–3.5) will need to be lowered with medication in order to prevent future atherosclerosis and coronary heart disease. [bjo.bmj.com]

Prevention - Familial Hypoalphalipoproteinemia Not supplied. [checkorphan.org]

The discovery could lead to more potent drug therapies that both target cholesterol deposition and prevent future accumulation. [www2.lbl.gov]