SUMMARY
The research of Teerin Liewluck, M.D., focuses on inflammatory or immune-mediated myopathies and amyloid myopathies. Immune-mediated myopathies encompass a group of autoimmune muscle diseases, including those with inflammation observed on muscle biopsy: inflammatory myopathies or myositis; dermatomyositis; inclusion body myositis; overlap myositis; granulomatous myopathy; and polymyositis. Myopathies without pathologic evidence of inflammation include: immune-mediated necrotizing myopathy; necrotizing autoimmune myopathy; and immune checkpoint inhibitor-associated myopathy. Diagnosis of these conditions can be clinically challenging, which leads to a delay in diagnosis and treatment.
Dr. Liewluck aims to study the epidemiology, natural history and factors contributing to the diagnostic delay in patients with immune-mediated myopathies. Amyloid myopathies are pathologically defined myopathies featuring extracellular amyloid deposits, which could be a result of systemic amyloidosis (such as light chain and transthyretin amyloidosis) or may represent an unusual presentation of certain muscular dystrophies (such as dysferlinopathy and anoctaminopathy) without extramuscular amyloid deposition. Diagnostic delay is common among patients with amyloid myopathies, which could lead to significant morbidity and mortality. Dr. Liewluck's goal is to facilitate a diagnosis of systemic amyloidosis-associated myopathies and to identify muscular dystrophies associated with amyloidosis restricted to skeletal muscle tissue (isolated amyloid myopathies).
Focus areas
- Epidemiology and natural history of inclusion body myositis and immune-mediated necrotizing autoimmune myopathy
- Characterization of immune checkpoint inhibitor-associated myopathies
- Diagnostic spectrum and treatment outcome of granulomatous myopathies, including sarcoid myopathy
- Diagnostic spectrum of systemic amyloidosis-associated myopathies and isolated amyloid myopathies
Significance to patient care
The results of Dr. Liewluck's research translate into clinical practice. For example, the natural history study of inclusion body myositis highlights the swallowing difficulty as an important prognostic factor related to morbidity and mortality. Dr. Liewluck and his colleagues described a cohort of immune mediated necrotizing myopathy patients with atypical clinical and pathological features, which led to significant diagnostic delay and unfavorable treatment outcome. This has helped clinicians worldwide to recognize such unusual presentations of this treatable disease. Immune checkpoint inhibitors are novel therapeutic agents used for metastatic cancer.
Dr. Liewluck and his team described a large cohort of this emerging group of patients who developed myopathy while receiving immune checkpoint inhibitors and highlighted the unique feature of ocular involvement, mimicking myasthenia gravis. The responsiveness to immunomodulatory therapy in patients with granulomatous myopathy is variable. Dr. Liewluck and his colleagues have shown that granulomatous myopathy patients with intracellular amyloid deposits generally respond poorly to treatment. As for amyloid myopathy, Dr. Liewluck and his team described the largest cohort of isolated amyloid myopathy patients, which helped raise awareness of this condition.
Professional highlights
- Scientific Impact Award, American Association of Neuromuscular and Diagnostic Medicine, 2021