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? 

• Orphanet
• NIH
• Beyond the Roundabout