From the Research
Tangier disease is a rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol, caused by mutations in the ABCA1 gene, which prevents cells from removing excess cholesterol properly, as reported in the most recent study 1.
Key Characteristics
- Extremely low levels of HDL cholesterol
- Caused by mutations in the ABCA1 gene
- Prevents cells from removing excess cholesterol properly
- Patients typically have orange-yellow tonsils, enlarged liver and spleen, peripheral neuropathy, and corneal clouding
Diagnosis and Management
- Diagnosis is based on clinical findings, laboratory tests, and genetic analysis
- Management focuses on treating symptoms and preventing complications through a low-fat diet, regular exercise, and avoiding smoking
- Medications like statins may be prescribed to manage overall cholesterol levels, though they don't correct the fundamental HDL deficiency
- Regular monitoring by specialists including cardiologists, neurologists, and lipid specialists is essential as patients have an increased risk of cardiovascular disease despite their unique lipid profile
Inheritance Pattern
- Tangier disease follows an autosomal recessive inheritance pattern, meaning both parents must carry the defective gene for a child to develop the condition, as noted in 1
Current Research and Treatment
- There is currently no specific cure for Tangier disease, but research is ongoing to develop new treatments, such as ABCA1-stimulating drugs, which have shown promise in increasing HDL levels and reducing cardiovascular risk, as discussed in 2
- Genetic counseling is recommended for affected individuals and their families to understand the risks and implications of the disease, as emphasized in 1