About LPIN1

This purpose of this page is to educate and remind parents and carers about symptoms in children to be alert to,
that might on the face of it seem not so telling, but that may have potentially fatal consequences.

The Condition – RHABDOMYOLYSIS – LPIN1 Gene

Rhabdomyolysis is a condition where muscle cells become stressed, and leak protein into the bloodstream. Rhabdomyolysis translates literally into 'dissolution of skeletal muscle'.  When this occurs you feel symptoms of muscle discomfort, including aches and pain on pressure – a little like you feel after a heavy bout of exercise.  There are many conditions which can also cause rhabdomyolysis. 

LPIN1 is a recently discovered genetic condition that can cause rhabdomyolysis on a massive scale, often without any apparent significant trigger, and is potentially life threatening.  

WARNING SIGNS

  •  Is your child moving normally one day but out of the blue cannot walk, or has back pain or muscle pain which then resolves, and the next day they seem back to normal?
  • Have you seen their urine change colour to become red or brown, and then goes back to its' normal yellow colour?

 These signs can suggest rhabdomyolysis and it is important that you see your doctor with your child and seek further action.

 ACTION

Rhabdomyolysis can be diagnosed by measuring creatine kinase from a blood sample.  The leaking muscle protein called myoglobin can be found in the urine but the doctor must ask for urine myoglobin.  These tests can confirm the presence of rhabdomyolysis, and then further tests can determine the cause of this muscle damage.  LPIN1 is a genetic condition which causes rhabdomyolysis on a massive scale which in turn can lead to cardiac arrest.

 CONSEQUENCES OF FAILING TO ACT

We had first hand experience when we sought medical treatment from not only our GP but also a paediatrician and the local hospital. Tragically for Thomas the appropriate blood testing regime that is required was not undertaken.

It tortures us each and every day that these vital signs were not further tested and that further blood tests were not ordered, because Thomas was taken away in the blink of an eye on one particular day.

This life-threatening condition is able to be treated if an appropriate plan of action is taken immediately.

Unfortunately in Australia there are three families whose children suffered disastrous consequences.  These occurred within 30 days of each other, resulting in the death of two little boys called Thomas, and another surviving with serious health complications.

There are preventative measures available and a response is required by the child’s parents/guardian urgently.  You should not just think that because the child shows no symptoms the next day that your child is okay. Vital and simple testing through blood sampling will enable you to rest easier.

 You can never be too cautious with your child.