Quantitative Sensory Testing in a Girl With Tangier Disease: A Case Report.
Edicson Ruiz-Ospina1, Fernando Ortiz-Corredor1, Sandra Milena Castellar-Leones1
1Rehabilitation Medicine, Universidad Nacional de Colombia, Bogotá, COL.
Cureus
|May 7, 2025
Summary
Tangier disease, a rare genetic disorder impacting HDL cholesterol, often involves neurological issues like peripheral nerve dysfunction. Small fiber neuropathy may be underrecognized due to diagnostic limitations.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Tangier disease is a rare genetic disorder stemming from ABCA1 gene mutations, leading to abnormal high-density lipoprotein (HDL) cholesterol metabolism.
- This condition affects multiple organs, notably the nervous system, manifesting in diverse neurological symptoms.
Observation:
- Peripheral nerve dysfunction, including sensory and motor deficits, is a primary neurological feature.
- Autonomic dysfunction, affecting bowel and bladder control, can also occur.
- Cholesterol deposition in neural tissues is the suspected cause of these neurological symptoms.
Findings:
- Electrophysiological studies in Tangier disease patients typically reveal signs of large fiber neuropathy.
- Small fiber neuropathy is not commonly recognized as a hallmark of Tangier disease.
- Quantitative sensory testing, crucial for detecting small fiber neuropathy, is often overlooked in clinical evaluations.
Implications:
- The underdiagnosis of small fiber neuropathy in Tangier disease may stem from a diagnostic focus on large fiber neuropathy.
- Normal electrodiagnostic results can mask underlying small fiber neuropathy, delaying accurate diagnosis.
- Further research into small fiber neuropathy detection in Tangier disease is warranted for comprehensive patient care.
