RESULTS: A 12 years-old boy with growth hormone deficiency and her 15 years old sister with stomatocytosis, present both high density lipoprotein (HDL) deficiency. Their parents present low values of HDL. [endocrinologiapediatrica.org]

Clinical description The clinical presentation and the severity of symptoms vary widely between patients. [orpha.net]

However, none of the other features of Tangier disease, including hepatomegaly, anemia and peripheral neuropathy, were present. [ncbi.nlm.nih.gov]

The first Italian cases with the genetic disorders are presented. Translated title of the contribution Familial deficiency of alphalipoproteins. [moh-it.pure.elsevier.com]

• Splenomegaly

  Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD). [ncbi.nlm.nih.gov]

• Enlarged Yellow-Orange Tonsils

  One easily visual characteristic usually found in children with Tangier disease is the presence of enlarged, yellow-orange tonsils. [www-personal.umd.umich.edu]

  […] lymph nodes Gastrointestinal symptom, such as diarrhea and abdominal pain Appearance or yellow patches on the intestinal mucosa, including the rectum Enlarged, yellow-orange tonsils Enlarged liver Enlarged spleen Premature cardiovascular disease People [cholesterol.about.com]

• Pertussis

  A Tangier-like PA and DG formation pattern could be induced in normal cells after preincubation with pertussis toxin, suggesting the involvement of a G-protein. [ncbi.nlm.nih.gov]

• Rectal Bleeding

  A 57-year old male with a past medical history of hypertension, coronary artery disease and splenectomy admitted to our hospital for rectal bleeding. In routine laboratory tests thrombocytopenia, hypocholesterolemia and low HDL levels were detected. [ncbi.nlm.nih.gov]

• Corneal Opacity

  The patient had a dizygous twin sister who had only asymptomatic corneal opacities and thrombopenia. This family demonstrates the wide intrafamilial phenotype diversity of TD. [ncbi.nlm.nih.gov]

  The main clinical feature in this case is corneal opacity which has given name to the disease as “Fish eyes disease” (Table 2). [endocrinologiapediatrica.org]

  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.medscape.com]

• Hyporeflexia

  0001677 Decreased HDL cholesterol concentration Decreased circulating high-density lipoprotein cholesterol Decreased HDL cholesterol Low HDL-cholesterol [ more ] 0003233 Distal amyotrophy Distal muscle wasting 0003693 Hepatomegaly Enlarged liver 0002240 Hyporeflexia [rarediseases.info.nih.gov]

• Limb Weakness

  The brain magnetic resonance imaging (MRI) of a juvenile man with acute onset of sudden right limb weakness and speechlessness revealed infarct lesions. [ncbi.nlm.nih.gov]

• Anisocytosis

  The study of erythrocyte morphology in peripheral blood revealed the presence of some stomatocytes (<5%) in the mother and anisocytosis in the index case and the 10 year-old brother (Table 1). [endocrinologiapediatrica.org]

The diagnosis and treatment ideas of stroke caused by Tangier disease via the summary of the diagnosis and treatment process of one case with juvenile stroke were explored. [ncbi.nlm.nih.gov]

Management and treatment The disease has no specific treatment. Tonsillectomy may be required in case of significant tonsillar enlargement. A low-fat diet helps in reducing liver enlargement and preventing atherosclerosis. [orpha.net]

Treatment Treatment Options: No treatment is available for this disorder beyond local organ treatment as indicated. [disorders.eyes.arizona.edu]

Currently the treatment for Tangier patients is dependent on the various symptoms, ranging from heart surgery to removal of organs. [www-personal.umd.umich.edu]

Prognosis Prognosis is usually good and depends mainly on the progression of peripheral neuropathy. TD patients with extremely low HDL cholesterol ( The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Usually benign, rarely coronary heart disease. [medical-dictionary.thefreedictionary.com]

There is a wide range of symptoms and signs with prognosis dependent upon the severity of disease. [disorders.eyes.arizona.edu]

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 mutations in the ABCA1 gene (9q31) encoding the ATP-binding cassette transporter (ABC1), a cholesterol efflux regulatory protein that is able to orient cellular cholesterol towards the cell surface and to facilitate its [orpha.net]

Enfermedad de Tangier, Déficit de lipoproteínas de baja densidad, Hipoalfalipoproteinemia, Analfalipoproteinemia INTRODUCTION Hypocholesterolemia due to abnormal low levels of high-density lipoprotein (HDL) (under 10 mg/dl) is an uncommon disease and its etiology [endocrinologiapediatrica.org]

Summary Epidemiology Prevalence of TD is unknown. Approximately 100 cases have been described worldwide. Clinical description The clinical presentation and the severity of symptoms vary widely between patients. [orpha.net]

Tangier disease: epidemiology, pathophysiology, and management.. Am J Cardiovasc Drugs 2012 Oct;12(5):303-11. 3. Brunham LR, Singaraja RR, Hayden MR.. [oapublishinglondon.com]

Tangier disease: epidemiology, pathophysiology, and management. Am J Cardiovasc Drugs 2012: 12: 303-311 Schaefer EJ, Santos RD. Chapter 135. Xanthomatoses and Lipoprotein Disorders. [cholesterol.about.com]

To report unusual electrophysiologic data in a patient with Tangier disease in an effort to better understand the pathophysiologic features of the peripheral nerve lesions in this disease. Case report. [ncbi.nlm.nih.gov]

Pathogenesis/Pathophysiology Back to Top TD is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. ABC1 codes for a protein that helps rid cells of excess cholesterol. [nursing-resource.com]

Tangier disease: epidemiology, pathophysiology, and management. Am J Cardiovasc Drugs 2012: 12: 303-311 Schaefer EJ, Santos RD. Chapter 135. Xanthomatoses and Lipoprotein Disorders. [cholesterol.about.com]

The pathophysiology of Tangier disease remains unclear. Progress in genetic studies and electrophysiologic data will likely enable better understanding of this disease. [jamanetwork.com]

Prevention Back to Top No known preventive measures as of this time. Treatment Back to Top There is no treatment for Tangier disease and treatment of decreased HDL-C with medication is usually ineffective. [nursing-resource.com]

Thus, ABCA1 plays a critical role in modulating flux of tissue cholesterol and phospholipids into the reverse cholesterol transport pathway, making it an important therapeutic target for clearing excess cholesterol from macrophages and preventing atherosclerosis [ncbi.nlm.nih.gov]

Medications may be given to lower the levels of bad cholesterol of LDL and prevent accumulation of deposits in the coronary artery and prevent any risk of cardiovascular diseases. [epainassist.com]