From HDL Deficiency to Neuropathy: Insights into Tangier Disease

Abstract

Introduction: This review aims to provide a comprehensive examination of Tangier disease, focusing on its clinical manifestations, pathophysiology, and diagnostic methods. The article also delves into the available management strategies, the challenges in treating this rare condition, and the ongoing research into potential therapeutic interventions.

Materials and Methods: A comprehensive review of the literature was conducted using the PubMed and Google Scholar databases with the following keywords: "Tangier disease", "HDL deficiency", "ABCA1", "neuropathy",  "high-density lipoprotein ",  "HDL", "apoA-I",  "CETP",  "atherosclerosis", "splenomegaly".

Summary: Tangier disease is a rare autosomal recessive genetic disorder caused by mutations in the ABCA1 gene, which impairs cholesterol transport and results in low levels of HDL. This leads to the accumulation of cholesterol esters in various tissues, including the tonsils, spleen, lymph nodes, and nerves. The disease is characterized by orange-colored, enlarged tonsils, splenomegaly, peripheral neuropathy, and a heightened risk for atherosclerotic cardiovascular disease. Diagnosis is confirmed through low HDL and apoA-I levels, along with genetic testing for ABCA1 mutations. While no cure exists, treatment focuses on symptom management, controlling cardiovascular risks, and improving HDL function through lifestyle and dietary changes.

Conclusions: Tangier disease, a rare genetic disorder caused by mutations in the ABCA1 gene, leads to severe lipid imbalances and various systemic complications. Although there is no cure, managing symptoms, controlling cardiovascular risks, and adopting lifestyle changes are essential for improving outcomes. Ongoing research into gene therapies and new treatments offers hope for future breakthroughs.