Presentation
Clinical description The clinical presentation and the severity of symptoms vary widely between patients. [orpha.net]
A 12-year-old boy presented with sore throat and fever. On physical examination, orange-yellow tonsils and adenoid tissue were noted. Mild hepatosplenomegaly was present. Lipid profile was compatible with Tangier disease (TD). [ncbi.nlm.nih.gov]
Entire Body System
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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]
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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]
Immune System
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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]
Respiratoric
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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]
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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]
Gastrointestinal
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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]
Eyes
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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]
Neurologic
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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]
Treatment
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 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]
Etiology
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]
Epidemiology
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]
Pathophysiology
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]
Prevention
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]