Disease Information for Tangier's disease

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Clinical Manifestations
Signs & Symptoms
Lymphadenopathy
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Loss pain/temperature sense/light touch preserved
Symmetric Polyneuropathy
Orange-yellow tonsillar hypertrophy
Tonsillar hypertrophy
Splenomegaly
Corneal clouding
Corneal infiltrate
Corneal opacity
Ptosis (blepharoptosis)
Typical Clinical Presentation
Presentation/Coronary Heart Disease Young Age
Clinical Presentation & Variations
Presentation/Arteriosclerosis Young Age
Presentation/Polyneuropathy Recurrent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
ApoA-I lipoprotein lipase apoenzyme/abnormal (Lab)
ApoA-II lipoprotein lipase apoenzyme/abnormal (Lab)
Abnormal Lab Findings - Decreased
ApoA-I lipoprotein Level (Lab)
Cholesterol (Lab)
HDL (High density lipoprotein) (Lab)
Phospholipids, serum (Lab)
Abnormal Lab Findings - Increased
Triglycerides (Lab)
Diagnostic Test Results
Other Tests & Procedures
Proctoscopy/Abnormality
Proctoscopy/Orange/brown deposits/rectum mucosa
Pathology
BX/Liver biopsy/Fatty change in liver tissue
PATH/Large fatty liver
PATH/Corneal fatty infiltrate
Associated Diseases & Rule outs
Associated Disease & Complications
Arteriosclerosis
Arteriosclerotic heart disease
Cataract
Facial nerve palsy/secondary
Fatty liver
Painful neuropathy
Peripheral neuropathy
Polyneuritis
Tangier's disease
Valvular heart disease
Facial Paralysis
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Cholesterol ester storage
Pathophysiology/Gene locus 9q22
Pathophysiology/Gene locus 9q22-q31
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lipid metabolism defect
Pathophysiology/Rapid HDL catabolism
Pathophysiology/Specific lipid accumulation tissues
Pathophysiology/Cholesterol esters storage/RES cells
Pathophysiology/Hereditary deafness
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
Synonyms
Synonym
Tangier's disease, Synonym/Alpha-lipoprotein deficiency, high density, Synonym/Familial high-density lipoprotein deficiency, Synonym/HDL deficiency, familial, Synonym/High density lipoprotein deficiency, Synonym/Hypoalphalipoproteinemia, familial
Definition

Tangier Disease; Alpha High-Density Lipoprotein Deficieny; Alphalipoproteinemia; Analphalipoproteinemia; Familial Alpha-Lipoprotein Deficiency; Familial High-Density Lipoprotein Deficiency; Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high density lipoproteins; Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration; In later stages, these accumulations may cause organ enlargement and/or blood circulation problems;

---------------------------[nord 2005]----------------------

Tangier Disease by Jackie Newman ;

Tangier Disease is an extremely rare autosomal recessive metabolic disorder; Documentation shows that as of 1988, 27 cases of Tangier Disease had been reported and in 1992 the reported cases were still fewer than 50 persons worldwide; The majority of the cases tend to localize in one single area of the US, Tangier Island, Virginia; The fact that most of the people that are affected by Tangier disease all live in close proximity to one another could be due to Founder"s effect; The original settlers to the island came in 1686 and it is possible that one or two of them were carriers of the disease or actually had the symptoms and passed it down through the blood line;

Characteristics of Tangier Disease include decreased levels or even a complete absence of high-density lipoproteins (HDL) concentrations in one"s plasma, low cholesterol levels in the plasma, increased cholesteryl esters in the tonsils, spleen, liver, skin and lymph nodes; One easily visual characteristic usually found in children with Tangier disease is the presence of enlarged, yellow-orange tonsils; Initial research of Tangier disease showed a marked decrease in the HDL concentrations when compared to normal controls; In some cases the reduction was as great as 50%; Scientists studied the HDL concentrations and looked for any possible links in its involvement with the disease; They specifically looked at the apo A-I (apolipoprotein) concentrations, which is a major protein component of HDL; Scientists discovered that the cause of Tangier disease is involved with the intracellular membrane trafficking of the HDL; Normally macrophages inside the cell have receptors that bind the HDL; After the HDL is bound it is transported into the endosomes; The endosome is transported through the cell without any degradation by the lysosome and the HDL is eventually resecreted from the cell; It is during this cycle that there are problems for the Tangier disease patient

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External Links Related to Tangier's disease
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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