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Tangier Disease

ATP-Binding Cassette Transporter A1 Deficiency


Presentation

  • Abnormal lipid storage was also present in the Schwann cells of the majority of unmyelinated fibres (67%).[ncbi.nlm.nih.gov]
  • 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]
  • To our knowledge, the present study is the first demonstration that the expression of this molecule is altered in cells from human disease.[ncbi.nlm.nih.gov]
  • 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]
Chronic Infection
  • The elevated excretion may be a consequence of the patient's plasma polyclonal gammopathy which had resulted from a chronic infection.[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]
  • A patient with asymptomatic hypocholesterolemia, mild hyperbilirubinemia, and splenomegaly was found, on lipoprotein analysis, to have Tangier disease (alpha-lipoprotein deficiency).[ncbi.nlm.nih.gov]
  • A 63-year-old Tangier homozygous man is described, who underwent splenectomy because of thrombocytopenia and splenomegaly.[ncbi.nlm.nih.gov]
  • We describe a 55-year-old patient with this condition, who underwent splenectomy 37 years before, because of splenomegaly with thrombocytopenia, and subsequently presented with abdominal pain and pancreatic mass, simulating a pancreatic tumor.[ncbi.nlm.nih.gov]
  • Abstract Tangier disease (also known as familial HDL-deficiency) is characterized by very low high density lipoprotein (HDL) plasma levels, splenomegaly, and massive cholesteryl ester accumulation in the cytoplasm of various cell types.[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]
  • The inhibition of neither Gi protein function by pertussis toxin nor PLD by butanol resulted in a G2/M-phase arrest. Propranolol, known to increase phosphatidic acid levels, was ineffective in reversing the G2/M-phase arrest in TD fibroblasts.[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]
Skin Lesion
  • Miglustat treatment was then interrupted with worsening of some neurological signs (memory defects, slowing of thought processes) and skin lesions.[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]
  • Diagnosis in the remaining subjects was related to the clinical features of hepatomegaly, splenomegaly, premature myocardial infarction (about 30% of Tangier disease cases) or stroke, thrombocytopenia, anemia, gastrointestinal disorders, corneal opacities[ncbi.nlm.nih.gov]
  • She had most of the clinical symptoms typically associated with Tangier disease, including early corneal opacities, yellow-streaked tonsils, hepatomegaly, and variable degrees of peripheral neuropathy, but had no splenomegaly.[ncbi.nlm.nih.gov]
  • In atypical cases, patients can also show signs of corneal opacity.[orpha.net]
  • opacity, and peripheral neuropathy; autosomal recessive inheritance.[medical-dictionary.thefreedictionary.com]

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]
  • Miglustat treatment was then interrupted with worsening of some neurological signs (memory defects, slowing of thought processes) and skin lesions.[ncbi.nlm.nih.gov]
  • Tonsils of Tangier Disease Victim Treatment Treatment for Tangier Disease varies from case to case. However, there is no cure for Tangier Disease. Treatment include organ replacement and heart surgery.[sherinkalappurayil.tripod.com]
  • This review focuses on the genetic and lipid abnormalities of TD, the consequence of these on clinical outcome and the possible treatment options. These abnormalities reflect the importance of HDL in the pathogenesis of vascular disease.[ncbi.nlm.nih.gov]

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]
  • There is a wide range of symptoms and signs with prognosis dependent upon the severity of disease.[disorders.eyes.arizona.edu]
  • Prognosis Usually benign, rarely coronary heart disease.[medical-dictionary.thefreedictionary.com]

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: 12: 303-311 Schaefer EJ, Santos RD. Chapter 135. Xanthomatoses and Lipoprotein Disorders.[verywellhealth.com]
Sex distribution
Age distribution

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]
  • 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]
  • Because of its ability to deplete cells of cholesterol and to raise plasma HDL levels, ABCA1 has become a promising therapeutic target for preventing cardiovascular disease.[ncbi.nlm.nih.gov]
  • This information could lead to a more precise assessment of the genetic predisposition to CHD as well as to new therapeutic tools to prevent and treat CHD.[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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