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 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]

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]

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]

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]

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]

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]

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]

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

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]

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]

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]