Chediak-Higashi Syndrome in Cats

Chediak-Higashi syndrome is an autosomal recessive disease characterized by incomplete oculocutaneous albinism, recurrent infections, enlarged granules in cells and a propensity for prolonged bleeding due to platelet storage pool deficiency.

Chediak-Higashi syndrome is a rare genetic disorder found in Persian cats, humans, cattle, mink, blue and silver foxes, mice and killer whales. Persians with a smoke blue color and yellow-green irises are susceptible to this genetic disorder. Chediak-Higashi syndrome is characterized by a deficiency of the pigment melanin in the eyes, skin and hair known as oculocutaneous albinism. Cats with this syndrome may have prolonged bleeding following a relatively minor injury or a simple surgical procedure. Cats with Chediak-Higashi syndrome are at risk for eye problems and frequent infections.

Chediak-Higashi syndrome in cats causes abnormal bleeding after an injury or a surgical procedure. Other symptoms characteristic to Chediak-Higashi syndrome may include:

• Photophobia (extreme sensitivity to light)
• Eyes will reflect a red eyeshine when exposed to light
• Excessive eye blinking 
• Eye watering
• Cataracts
• Kidney lesions
• Chronic infection
• Decreased pigmentation in skin and eyes
• Abnormal immune function

Chediak-Higashi syndrome is a rare genetic disorder caused by a mutation of the CHS1 gene. Persian cats with smoke blue coloring and yellow-green irises are the most susceptible to this genetic disorder. This particular mutation has be documented in humans and in other animals. 

Due to the genetic nature of the disease, Chediak-Higashi syndrome may be apparent at or shortly after birth. The gene mutation that causes Chediak-Higashi syndrome is inherited in an autosomal recessive manner with complete penetrance. Cats affected by this disorder receive one defective gene from each parent.

Your veterinarian will complete a thorough examination of your cat. Your cat’s health history will be an important part of the evaluation process. Be prepared to share with your veterinarian when you first noticed symptoms, how long the symptoms have been a concern and any significant changes you may have noticed. 

Your veterinarian will conduct blood testing and urinalysis on your cat. A tissue biopsy may also be needed as a part of the diagnosis. If the testing reveals giant granules in cells and a reduced number of immune cells in the blood, a diagnosis of Chediak-Higashi is confirmed. 

There is no specific treatment for Chediak-Higashi syndrome. Treatment of this condition is supportive in nature and focuses on addressing specific symptoms as they occur.

A common treatment for Chediak-Higashi Syndrome is administration of vitamin C to help improve the functioning of blood cells and platelets. Vitamin C may help decrease bleeding time. Your veterinarian may give your cat a transfusion of plasma in an effort to normalize bleeding time. 

Infections are treated with antibiotics and any abscesses may be surgically drained. Some cats with Chediak-Higashi syndrome have been treated with antiviral drugs or steroids. A bone marrow transplant may also be a suggested treatment.

It is important for your cat to have regular veterinary check-ups to monitor the progress of Chediak-Higashi syndrome. Contact your veterinarian when your cat has even the slightest injury, so treatment to combat infection can be started. Check your cat regularly for any cuts or scratches and monitor the condition of his coat. Keep your cat’s claws smooth to lessen the risk of an accidental scratch. If you notice changes in your cat’s behavior, contact your veterinarian for guidance.

Once your cat is diagnosed Chediak-Higashi syndrome, you will need to become diligent about maintaining as safe an environment as possible to avoid injuries. Your cat should be kept indoors in a sheltered environment due to his photosensitivity. Due to the lack of pigment in your cat’s skin, he is also at risk for sunburn. 

Be sure anyone providing care for your cat is aware of his condition and you have reviewed necessary precautions and your cat’s treatment protocol with them. Keep your veterinarian’s telephone number handy.

Your veterinarian will use special precautions when treating your cat, particularly when drawing blood. If your cat has to be seen someone other than your regular veterinarian, be sure to update the new doctor on his condition prior to treatment. 

Due to the genetic nature of Chediak-Higashi syndrome, it is highly recommended to spay or neuter your cat to prevent further transmission of the syndrome. If breeding is a consideration, both the male and female need to be tested for the syndrome prior to breeding. 

Although your cat may have a chronic condition, cats with Chediak-Higashi syndrome may enjoy a good quality of life with proper care and treatment. Cats with mild to moderate clinical signs of Chediak-Higashi syndrome may have a normal life expectancy but will continue to exhibit symptoms throughout their lifetimes.