[Heart without HDL.Tangier disease].

Area of Science:

• Lipidology
• Genetics
• Cardiovascular Medicine

Background:

• Tangier disease is a rare autosomal recessive disorder characterized by defects in lipid metabolism.
• It leads to severely deficient high-density lipoprotein (HDL) and apolipoprotein A-I (apoA-I) levels.
• This deficiency results from mutations in the ABCA1 gene, affecting cholesterol efflux.

Observation:

• A 37-year-old male presented with profound dyslipidemia, including extremely low HDL (4 mg/dL) and apoA-I (3.9 mg/dL) levels.
• Physical examination revealed characteristic orange tonsils and hepatosplenomegaly.
• Hematologic findings included thrombocytopenia and stomatocytes.

Findings:

• The patient exhibited severe coronary atherosclerosis, necessitating percutaneous revascularization.
• He later developed restenosis, requiring coronary artery bypass grafting (CABG).
• Diagnosis of Tangier disease was confirmed by the pathognomonic triad: HDL deficiency, low cholesterol with normal triglycerides, and orange tonsils.

Implications:

• This case underscores the critical role of HDL in cardiovascular health and highlights the severe early-onset atherosclerosis associated with Tangier disease.
• Early diagnosis and aggressive management of cardiovascular risk factors are crucial in patients with Tangier disease.
• Understanding the genetic basis of Tangier disease can inform therapeutic strategies for lipid disorders.