Overview
Pulmonary lipid storage disease encompasses rare disorders characterized by abnormal lipid accumulation, often manifesting as muscle weakness and elevated creatine kinase levels. Multiple acyl-CoA dehydrogenase deficiency (MADD), a subtype, can be acquired, particularly with sertraline use, leading to respiratory chain inhibition and lipid storage myopathy 1.Diagnosis
Clinical Presentation: Proximal muscle weakness, elevated creatine kinase levels 12.
Biochemical Markers: Elevated medium-chain and long-chain acylcarnitine species in plasma acylcarnitine profile 2.
Muscle Biopsy: Cytoplasmic vacuoles stained with oil red O indicating lipid storage 2.
Specific Tests: Muscle biopsy, serum creatine kinase, plasma acylcarnitine profile 12.Management
First-Line Treatment: High-dose riboflavin supplementation 12.
Adjunctive Measures: Discontinuation of causative agents like sertraline, if applicable 1.Special Populations
Elderly: MADD should be considered in elderly patients presenting with subacute muscle weakness 2.Key Recommendations
Initiate high-dose riboflavin supplementation for acquired MADD, particularly in sertraline-associated cases, leading to clinical recovery 1 (Evidence: Strong).
Consider MADD in differential diagnosis for elderly patients with unexplained muscle weakness and mildly elevated CK levels 2 (Evidence: Moderate).
Evaluate and discontinue potential causative medications (e.g., sertraline) alongside riboflavin therapy 1 (Evidence: Expert opinion).References
1 Shaibani A, Taylor A. Sertraline-Associated Riboflavin-Responsive Lipid Storage Myopathy: Report of Two Case. Muscle & nerve 2026. link
2 Zheng Y, Zhao Y, Zhang W, Wang Z, Yuan Y. Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report. BMC neurology 2020. link