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脾肿大、丘疹、血小板减少、角膜混浊、硬化
Tangier disease is an autosomal-recessive ABCA1 deficiency causing failure of cholesterol efflux and severe HDL deficiency. Clinical: enlarged orange/yellow tonsils, hepatosplenomegaly, mild thrombocytopenia, and relapsing neuropathy; surprisingly, CAD risk is variable. There is no specific therapy; dietary management and cardiovascular risk management.
Orange tonsils; hepatosplenomegaly; neuropathy; very low HDL; mild thrombocytopenia
ABCA1 mutation blocks cholesterol efflux to apoA-I, causing low HDL and cholesterol accumulation in reticuloendothelial tissues.
No specific therapy; tonsillectomy for symptoms; cardiovascular risk management; diet
Genetic counseling; family screening; manage cardiovascular risk.
It is recommended to visit the Cardiology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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