Niemann-Pick disease is a neurological disorder that's seen in certain breeds with the Siamese being high on the list of cats most affected by the condition. It is a neurological lysosomal storage disease that's caused by an autosomal recessive gene that cats can pass on to their offspring. As such, any cat known to be a “carrier” of the disorder should never be used in a breeding programme, but rather spayed or neutered when they are old enough to undergo the procedures.
The breeds known to be most at risk of developing Niemann-Pick disease are as follows:
Cats that inherit the disorder typically start to show of there being something wrong with them when they are just a few weeks old. As time passes, their symptoms get gradually worse. With this said, the severity of a cat's symptoms can vary from animal to animal, but the most common signs of there being something wrong typically includes the following:
A vet would need to have a cat's full medical history and ideally know their ancestry too which helps establish if there is a genetic link to why a cat might have developed the disorder. A cat suspected of suffering from Niemann-Pick disease would be thoroughly examined and a vet would typically recommend carrying out the following tests to confirm a diagnosis:
However, establishing a correct diagnosis would depend on the clinical signs a cat presents when suspected of suffering from Niemann-Pick disease. The vet would also want to rule out any other health issues that may be causing a cat's systems, but they would want to eliminate metabolic and inflammation disorders before coming to a definitive diagnosis.
Treatment options are extremely limited when it comes to cats suffering from Niemann-Pick disease, but the prognosis tends to be poor with most cats having to be put to sleep when they are diagnosed as suffering from the condition when they are just a few weeks old.
It is essential for cats known to be predisposed to suffering from the condition to be screened before being used in a breeding programme which is the only way of identifying if they are carriers. Should a cat be tested and it's found they are carriers, they should be spayed or neutered to prevent them from being used for breeding purposes and as such passing the condition on to offspring.