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Chediak-Higashi Syndrome in Cats

By Catherine Barnette, DVM

Medical Conditions, Pet Services

What is Chediak-Higashi syndrome?smoke_blue_persian_cat

Chediak-Higashi syndrome is a rare genetic disease of smoke-blue Persian cats. This condition affects how the body’s cells process waste products, leading to changes within the cells and abnormal pigmentation of the skin and coat. Chediak-Higashi syndrome is caused by a recessive gene, which means that both parents of an affected cat must be carrying the genetic mutation associated with Chediak-Higashi syndrome.

This condition is found in a variety of other species, including humans, mink, Arctic foxes, rats, killer whales, and certain breeds of cattle.

 

What are the signs of Chediak-Higashi syndrome?

Chediak-Higashi syndrome typically affects smoke-blue Persians, with yellow to light-green eyes. Less commonly, affected cats may have a white coat.

Cats with Chediak-Higashi syndrome often have multiple eye abnormalities. They may develop cataracts at an early age, often before three months old. When a light is shined into the eye, the reflection often appears red or orange due to abnormal pigmentation of the eye structures. Additionally, some affected cats demonstrate an extreme sensitivity or aversion to light, known as photophobia.

The most significant effect of Chediak-Higashi syndrome, however, is increased bleeding. This is caused by abnormally-functioning platelets. Platelets are small cells that are responsible for blood clotting. In cats with Chediak-Higashi syndrome, these platelets do not clump together in the way that they should. Therefore, cats with Chediak-Higashi syndrome may bleed excessively after blood draws, surgery, or trauma. Their gums may bleed with irritation and they may develop nosebleeds after sneezing.

Chediak-Higashi syndrome also affects cells in the immune system. In most cats, these effects are mild and they do not experience any more illness than unaffected cats. Severely-affected cats, however, may experience more frequent infections due to a weakened immune system.

 

How is Chediak-Higashi syndrome diagnosed?chediak_higashi_syndrome-01

Your veterinarian will begin by taking a complete medical history and performing a thorough physical examination. On bloodwork, your veterinarian may notice a decrease in the number of white blood cells in your cat’s blood. If your cat’s blood is examined under a microscope, your veterinarian may see abnormal white blood cells that contain large granules. In some cases, a tissue biopsy may be required to diagnose Chediak-Higashi syndrome.

There is currently no genetic test available for Chediak-Higashi syndrome. Cats that carry the gene can only be identified if they are bred to another carrier and produce one or more offspring with the condition. Both parents of an affected cat are confirmed carriers of the gene for Chediak-Higashi syndrome.

 

How is Chediak-Higashi syndrome treated?

Most cats with Chediak-Higashi syndrome do not need specific treatment. These cats should, however, receive regular veterinary care in order to monitor their health status. Your veterinarian will likely use special care when performing blood draws or other procedures on your cat in order to prevent bleeding. If you find yourself seeing a new veterinarian, it is best to inform them that your cat has a bleeding disorder so that they can also take appropriate precautions.

In some cases, your veterinarian may recommend vitamin C to improve the functioning of your cat’s platelets and white blood cells. If your pet is undergoing surgery, your veterinarian may also suggest a pre-surgical platelet transfusion, in order to prevent excessive bleeding.

Cats with Chediak-Higashi syndrome should be kept indoors. This will reduce their risk of trauma and subsequent bleeding, while also decreasing their exposure to infectious diseases. Additionally, keeping these cats indoors protects their eyes and skin from harmful effects of the sun that can occur due to their lack of normal pigmentation.

Affected cats should not be bred and parents of affected cats should be removed from breeding programs.

What is the prognosis for cats with Chediak-Higashi syndrome?

The prognosis for cats with Chediak-Higashi syndrome is good. Most affected cats have a normal lifespan.

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