Shar-Pei Autoinflammatory Disease

General Information: Shar-Pei Autoinflammatory Disease (SPAID) primarily affects Shar-Pei dogs, manifesting as recurrent episodes of fever and joint swelling, particularly in the hocks. Symptoms can appear as early as the first few months of life, although onset may vary, with some dogs not exhibiting symptoms until later, even up to 12 years old. Most affected dogs show signs before the age of six. During flare-ups, dogs may experience fever, lameness in affected limbs, lethargy, loss of appetite, and irritability. Swelling can also occur in the wrists, knees, hips, or jaws, although these are less common. Episodes usually resolve spontaneously within 24-48 hours but can be alleviated more quickly with anti-inflammatory medications. Despite episodic flare-ups, affected dogs can lead normal lives outside of episodes, though they remain at risk for renal amyloidosis, which can lead to kidney failure.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Shar-Pei Autoinflammatory Disease (SPAID) is available and targets the MTBP gene to identify carriers and affected dogs. SPAID is inherited in an autosomal incomplete dominant fashion, meaning that even a single copy of the mutated gene can make a dog susceptible to the disease, though symptoms are more pronounced in those with two copies. Each offspring of a carrier has a 25% chance of inheriting two copies of the mutation and a 50% chance of inheriting one, potentially leading to the disease. Therefore, it is crucial to test breeding dogs to ensure they are not carriers of the MTBP gene mutation. To prevent the perpetuation of this condition, breeding of known carriers, particularly to other carriers, is strongly discouraged. Dogs that test negative for the mutation present no increased genetic risk of producing affected offspring when paired with another clear dog, helping to reduce the incidence of SPAID in future generations.