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    LPIN1 Mutation-Associated Rhabdomyolysis

    What is LPIN1 mutation-associated rhabdomyolysis?

    Autosomal recessive LPIN1 mutations have been recently described as a cause of rhabdomyolysis in a few families.

    Rhabdomyolysis is the rapid destruction of skeletal muscle resulting in leakage into the urine of the muscle protein myoglobin. 

    What are the symptoms of LPIN1 mutation-associated rhabdomyolysis? 

    Symptoms include:

    • Symptoms of kidney failure, which may include swelling of the hands and feet
    • Shortness of breath as excess fluid builds up in the lungs
    • Weakness and lethargy
    • Symptoms of hyperkalemia (elevations in potassium in the blood) such as weakness, nausea, lightheadedness, and palpitations due to heart rhythm disturbances)
    • Disseminated intravascular coagulation, or a disruption of the normal blood clotting process, may occur as unexplained bleeding

    What are the treatments for LPIN1 mutation-associated rhabdomyolysis?

    Treatment involves the IV administration of fluids and high caloric/high carb intake i.e. glucose. 

    There is currently no cure.

    Where can I find out more about LPIN1 mutation-associated rhabdomyolysis? 

    LPIN1 Mutation-Associated Rhabdomyolysis Articles

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