Symptoms

Tangier disease is a genetic disease causing by a mutation of the ABCA1 gene. 

The main symptoms of Tangier disease include low levels of HDL cholesterol. HDL cholesterol is the good cholesterol, so it's essential to have enough. Patients can also have enlarged, orange tonsils, neuropathy, corneal clouding, an enlarged spleen, and an enlarged liver. 

Below you can find an explanation on the different between HDL cholesterol and LDL cholesterol, and why having too little HDL is not good for you. 

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To diagnose Tangier disease, a genetic test is necessary. Sometimes pre-natal tests are done to determine if that parents are carriers for the disease, but not often. 

Unfortunately, there is no specific treatment for Tangier disease. Some patients have their tonsils removed due to extreme enlargement, but not all patients experience this. 

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Tangier disease can also cause what doctors call, Adjustment Disorder. Adjustment disorder is when a patient has a difficult time coming to terms with and adjusting to life after a major life event, such as being diagnosed with a genetic condition. Adjustment disorder can cause depression and anxiety and while not directly linked to Tangier disease, adjustment disorder is something that should be observed for in newly diagnosed patients.