Symptoma

Tangier Disease

ATP-Binding Cassette Transporter A1 Deficiency

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

A 62-year-old man with clinical and biochemical findings consistent with homozygous Tangier disease is presented. Widespread atherosclerosis was present. Bile lipid analysis showed a low molar percentage of cholesterol with a low saturation index. [ncbi.nlm.nih.gov]

  • Juvenile Cataract

    The 42-year-old proband had obvious juvenile cataracts, mild hepatosplenomegaly, and an extremely low level of HDL-C (1 mg/dl), consistent with the diagnosis of TD. [ncbi.nlm.nih.gov]

  • Intermittent Claudication

    At 53 years old, 15 months after surgery, the patient reported intermittent claudication, coldness of feet, and impotence. Aortic angiography showed progression of the stenosis at the bifurcation of the common iliac artery. [ncbi.nlm.nih.gov]

  • 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]

    yellow-orange tonsils Enlarged liver Enlarged spleen Premature cardiovascular disease People who are classified as having heterozygous Tangier disease, on the other hand, only have one copy of the mutated gene. [verywellhealth.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]

  • Gagging

    RT-PCR amplification of four overlapping DNA fragments, using the following primers pairs: ( i ) 75S (5′-CTA CCC ACC CTA TGA ACA AC-3′) and 2561R (5′-CTC TTC TCA TCA CTT TCC TC-3′), ( ii ) 1991S (5′-GCT GGT TCA TTA GTA GCC TCA-3′) and 3731R (5′-CCA TCT GAG [pnas.org]

  • 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]

    In atypical cases, patients can also show signs of corneal opacity. [orpha.net]

    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]

  • 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]

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]

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]

Thus it appears unlikely that adipocytes play a role in the etiology of Tangier disease. [ncbi.nlm.nih.gov]

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]

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]

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. [verywellhealth.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. [verywellhealth.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]

Because of its ability to deplete macrophages of cholesterol and to raise plasma HDL levels, ABCA1 has become a promising therapeutic target for preventing cardiovascular disease. [ncbi.nlm.nih.gov]

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]

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