A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations

Area of Science:

• Genetics
• Metabolic Disorders
• Rare Diseases

Background:

• Tangier disease is a rare autosomal recessive disorder.
• It is characterized by extremely low high-density lipoprotein (HDL) levels and specific physical findings.
• Mutations in the ABCA1 gene are the known cause of Tangier disease.

Purpose of the Study:

• To report a case of a patient with non-classical Tangier disease.
• To investigate the genetic basis of the patient's condition.
• To contribute to the understanding of Tangier disease phenotypes.

Main Methods:

• Case report of a 45-year-old female with a history of cardiovascular events and thrombocytopenia.
• Genetic analysis to identify mutations in the ABCA1 gene.
• Review of patient's medical history and physical examination findings.

Main Results:

• The patient presented with immeasurable HDL levels and a history of idiopathic thrombocytopenia purpura.
• Three deleterious mutations in the ABCA1 gene were identified: A1046D, Y1532C, and W1699C.
• The genetic findings suggest a complex mutation pattern potentially affecting both alleles.

Conclusions:

• The case expands the known phenotype of Tangier disease.
• The presence of multiple ABCA1 mutations can lead to severe HDL deficiency.
• Further reporting of similar cases is crucial for a comprehensive understanding and diagnosis of Tangier disease.