Tangier disease

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

Atherosclerosis

A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.

Total: 7

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PMID (PMCID)
26616730	MALE
	Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation.
	Murano T, Yamaguchi T, Tatsuno I, Suzuki M, Noike H, Takanami T, Yoshida T, Suzuki M, Hashimoto R, Maeno T, Terai K, Tokuyama W, Hiruta N, Schneider WJ, Bujo H. Clin Chim Acta. 2016;452:167-72.
	Here, using high-performance liquid chromatography with a gel filtration column (HPLC-GFC), we have studied the lipoprotein profile of a 17-year old male patient with Tangier disease who to date has not developed manifest coronary atherosclerosis.
26616730	MALE
	Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation.
	Murano T, Yamaguchi T, Tatsuno I, Suzuki M, Noike H, Takanami T, Yoshida T, Suzuki M, Hashimoto R, Maeno T, Terai K, Tokuyama W, Hiruta N, Schneider WJ, Bujo H. Clin Chim Acta. 2016;452:167-72.
	Tangier disease, characterized by low or absent high-density lipoprotein (HDL), is a rare hereditary lipid storage disorder associated with frequent, but not obligatory, severe premature atherosclerosis due to disturbed reverse cholesterol transport from tissues.
25441921	MALE
	The curious case of the orange coloured tonsils.
	Ravesloot MJ, Bril H, Braamskamp MJ, Wiegman A, Wong Chung RP. Int J Pediatr Otorhinolaryngol. 2014;78(12):2305-7.
	Even though there is no specific therapy for patients with Tangier disease, it is important to recognize the clinical presentation as patients are at an increased risk of developing atherosclerosis and subsequent CVD.
23351586	FEMALE	Adult
	A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease.
	Negi SI, Brautbar A, Virani SS, Anand A, Polisecki E, Asztalos BF, Ballantyne CM, Schaefer EJ, Jones PH. J Clin Lipidol. 2013;7(1):82-7.
	We describe a patient with a unique phenotype of Tangier disease from a novel splice site mutation in the ABCA1 gene that is associated with a central nervous system presentation resembling multiple sclerosis, and the presence of premature atherosclerosis.
7848370	MIXED_SAMPLE	Adult
	Characterization of atherosclerosis in a patient with familial high-density lipoprotein deficiency.
	Walter M, Kerber S, Fechtrup C, Seedorf U, Breithardt G, Assmann G. Atherosclerosis. 1994;110(2):203-8.
	Our findings suggest that HDL deficiency and foam cell formation in Tangier disease are not necessarily associated with accelerated development of atherosclerosis.
7848370	MIXED_SAMPLE	Adult
	Characterization of atherosclerosis in a patient with familial high-density lipoprotein deficiency.
	Walter M, Kerber S, Fechtrup C, Seedorf U, Breithardt G, Assmann G. Atherosclerosis. 1994;110(2):203-8.
	The lack of severe atherosclerosis was remarkable insofar as massive foam cell formation and the virtually complete absence of circulating HDL is characteristic of Tangier disease and has been previously demonstrated in this patient.
8053248	MALE	Middle Aged
	[Coronary angiography and intravascular ultrasound examination of a 60-year-old patient with familial HDL deficiency (Tangier disease)].
	Walter M, Kerber S, Fechtrup C, Seedorf U, Breithardt G, Assmann G. Z Kardiol. 1994;83(5):381-5.
	The lack of severe atherosclerosis was remarkable insofar as massive foam cell formation in reticuloendothelial tissues and the virtually complete absence of circulating HDL is characteristic of Tangier disease and had been previously demonstrated in this patient.