Mattia Porcino
Clinical and laboratory follow-up in a cohort of lipid storage myopathies: a single center experience.
Autori
- MATTIA PORCINO (1CLINICAL AND EXPERIMENTAL MEDICINE DEPARTMENT, UNIVERSITY OF MESSINA, MESSINA, ITALY. 2UNIT OF NEUROLOGY AND NEUROMUSCULAR DISORDERS, UNIVERSITY OF MESSINA, MESSINA, ITALY. – NEUROLOGIA)
- IGNAZIO GIUSEPPE ARENA (1CLINICAL AND EXPERIMENTAL MEDICINE DEPARTMENT, UNIVERSITY OF MESSINA, MESSINA, ITALY. 2UNIT OF NEUROLOGY AND NEUROMUSCULAR DISORDERS, UNIVERSITY OF MESSINA, MESSINA, ITALY. – NEUROLOGIA)
- ALBA MIGLIORATO ( 2UNIT OF NEUROLOGY AND NEUROMUSCULAR DISORDERS, UNIVERSITY OF MESSINA, MESSINA, ITALY. – BIOLOGIA)
- MARIA GRAZIA IGEA FALCONE (1CLINICAL AND EXPERIMENTAL MEDICINE DEPARTMENT, UNIVERSITY OF MESSINA, MESSINA, ITALY. – NEUROLOGIA)
- CARMELO RODOLICO (1CLINICAL AND EXPERIMENTAL MEDICINE DEPARTMENT, UNIVERSITY OF MESSINA, MESSINA, ITALY. 2UNIT OF NEUROLOGY AND NEUROMUSCULAR DISORDERS, UNIVERSITY OF MESSINA, MESSINA, ITALY. – NEUROLOGIA)
- ANTONIO TOSCANO (1CLINICAL AND EXPERIMENTAL MEDICINE DEPARTMENT, UNIVERSITY OF MESSINA, MESSINA, ITALY. – NEUROLOGIA)
- OLIMPIA MUSUMECI (1CLINICAL AND EXPERIMENTAL MEDICINE DEPARTMENT, UNIVERSITY OF MESSINA, MESSINA, ITALY. 2UNIT OF NEUROLOGY AND NEUROMUSCULAR DISORDERS, UNIVERSITY OF MESSINA, MESSINA, ITALY. – NEUROLOGIA)
Presentatore
MATTIA PORCINO
Modalità
Oral Communication
Abstract
“Background. Lipid Storage Myopathies (LSMs) are rare autosomal recessive inherited conditions characterized by lipid accumulation in muscle fibers. These include alterations in mitochondrial transport, and fatty acid oxidation defects (FAODs). Their rarity often raises diagnostic struggle and a delay in referring patients to Expert Centers. In this study, we characterized a cohort of 34 patients with LSMs.
Patients and Methods. We retrospectively collected clinical, morphological, biochemical, and molecular features from patients with LSMs followed in our Center over the last two decades.
Results. Our cohort included 15 patients with CPTII deficiency, and 19 with FAODs (14 MADD, 5 VLCAD). At presentation, patients with CPTII deficiency exhibited a combination of myalgia (14), rhabdomyolysis (8), and exercise intolerance (6). MADD clinical spectrum covered muscle weakness (14), fatigue (14), contractures (6), dysphagia (4), and dysphonia (1). VLCAD patients presented with myalgia (5) and rhabdomyolysis (3). All patients displayed hyperCKemia (range 400-237000 U/L). Fever and mild-to-intense physical exercise triggered muscular symptoms in 50% of patients. EMG was nonspecific. Plasma acylcarnitine levels were increased. Muscle biopsy demonstrated a lipid storage myopathy in 80% of cases. Genetic testing confirmed diagnosis. Riboflavin treatment in MADD patients was effective overtime. Data at follow-up showed that symptoms and burden of disease remained relatively stable for all genotypes.
Conclusion. Due to their rarity, to increase knowledge and awareness about LSMs can facilitate early recognition of complex and potentially treatable conditions. Data on the natural history and disease course are important for evaluating the effectiveness of new emerging treatments.”