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  • Updated 05.12.2023
  • Released 03.16.2021
  • Expires For CME 05.12.2026

Disorders of lipid metabolism



Disorders of lipid metabolism are a heterogeneous group of diseases that cause excessive lipid storage in multiple organs, with skeletal and cardiac muscle most commonly affected. Although rare, definitive diagnosis is crucial as treatment with specific supplements or dietary modification can improve clinical outcomes in some patients. The main clinical phenotypes consist of fixed progressive muscle weakness or episodic rhabdomyolysis with variable cardiomyopathy. These disorders are mostly genetic in origin and are the main subject of this review. Acquired causes of lipid myopathy are briefly addressed.

Key points

• Lipid myopathies are genetic disorders with autosomal recessive transmission. Therefore, they have no significant gender predominance and are more common in children of consanguineous parents.

• Classic lipid myopathies with massive lipid accumulation tend to present with fixed and progressive muscle weakness and cardiomyopathy.

• Lipid disorders with modest tissue lipid deposits tend to cause a phenotype of episodic weakness with rhabdomyolysis triggered by metabolic stress.

LPIN1 and carnitine palmitoyltransferase II deficiencies are the most common genetic causes of recurrent rhabdomyolysis in children and adults, respectively.

• In all lipid myopathies, measurements of plasma acylcarnitines, urinary organic acid profile, and detection of the Jordan anomaly in a peripheral blood smear can be useful diagnostic tools. Genetic testing or enzymatic assays can then provide a definitive diagnosis.

• Treatment involves avoiding triggers of metabolic stress, supplementation (carnitine, riboflavin, and coenzyme Q10), and dietary modifications.

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