Accelerated Atherogenicity in Tangier Disease.

Area of Science:

• Cardiovascular Medicine
• Genetics
• Metabolic Disorders

Background:

• Tangier disease is a rare genetic disorder characterized by extremely low high-density lipoprotein cholesterol (HDL-C) levels.
• It is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene, leading to impaired cholesterol efflux.
• Patients typically present with orange-colored tonsils and enlarged liver and spleen.

Observation:

• A male patient with a history of childhood nasal hemorrhage was diagnosed with Tangier disease.
• He developed severe atherosclerosis, including coronary and iliac artery stenosis, leading to angina and Leriche syndrome.
• Post-surgical complications included subcutaneous oozing and anastomotic leakage, suggesting a bleeding tendency.

Findings:

• The patient exhibited two single-nucleotide polymorphisms (V825I and N935T) in the ABCA1 gene.
• Accumulation of small dense low-density lipoprotein and markedly decreased HDL-C levels were confirmed.
• This is the first reported case of Tangier disease presenting with extensive atherosclerosis, Leriche syndrome, and a bleeding tendency.

Implications:

• This case underscores the complex and potentially severe manifestations of Tangier disease beyond lipid abnormalities.
• It highlights the association between ABCA1 gene mutations, extensive atherosclerosis, and an unusual bleeding diathesis.
• Further research is warranted to understand the mechanisms linking Tangier disease to bleeding complications and advanced cardiovascular disease.