[Telomeropathies: A study of 15 cases]

Area of Science:

• Genetics
• Cell Biology
• Hematology

Background:

• Telomeres protect chromosome ends, and their maintenance involves the Shelterin and telomerase complexes.
• Dysregulation of telomere maintenance leads to telomeropathies, a group of rare genetic disorders.
• These conditions are challenging to diagnose and manage, often presenting with hematological abnormalities.

Purpose of the Study:

• To describe the clinical and biological characteristics of patients with telomeropathies.
• To review treatments administered to telomeropathy patients.
• To identify potential diagnostic and therapeutic challenges in managing telomeropathies.

Main Methods:

• A retrospective, single-center study was conducted.
• Data were collected from patients followed for telomeropathy between 2005 and 2020.
• Included probands and their relatives diagnosed with telomeropathy.

Main Results:

• Fifteen patients from 10 families were analyzed; 60% had a TERC gene mutation.
• Common manifestations included hematological diseases (67%), fibrotic liver (20%), and lung disease (27%).
• A unique γδ TCR expressing double-negative T lymphocyte population was observed in 33% of patients.

Conclusions:

• Telomeropathies are complex and can be misdiagnosed as immune aplastic anemia.
• Awareness is crucial for optimizing patient management and avoiding inappropriate therapies.
• Hematopoietic stem cell allografting is the sole potentially curative treatment; novel immunophenotypic findings require further investigation.