Shar-Pei Autoinflammatory Disease

Other Names: Familial Renal Amyloidosis, Hock Fever, Periodic Fever, Shar-Pei Fever, Swollen Hock Syndrome, SPAID
Affected Genes: MTBP
Inheritance: Autosomal Incomplete Dominant
Mutation: chr13:19383758-19383758: G/A
Breed(s): Carolina Dog, Chinese Shar-Pei, Shar-Pei

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Common Symptoms

Shar-pei autoinflammatory disease is an inherited immunologic disorder affecting dogs. Affected dogs have recurrent episodes of fever and joint swelling, especially of the hocks. Symptoms typically present in the first few months of life, but some dogs may not show signs of disease until later in life. The first signs of disease have been reported in dogs up to 12 years of age, but most dogs will develop signs of the disease by 6 years of age. During episodes, dogs often display a fever and are typically lame in the swollen limb(s), lethargic, anorexic, and irritable. Though less common, joints of wrist, knee, hip, or jaw may also exhibit swelling. Episodes typically resolve on their own within 24-48 hours, but with treatment with anti-inflammatory drugs they may resolve faster. While affected dogs typically lead normal lives when not having episodes, they are predisposed to renal amyloidosis which leads to kidney failure. Shar-pei dogs with a padded (meatmouth) muzzle appear to be predisposed to developing this condition.


Testing Tips

Genetic testing of the MTBP gene will reliably determine whether a dog is a genetic Carrier of shar-pei autoinflammatory disease. Shar-pei autoinflammatory disease is inherited in an autosomal incomplete dominant manner in dogs that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing the disease. Though clinical signs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also show signs of autoinflammatory disease. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for shar-pei autoinflammatory disease. When carriers of this Mutation are bred with another dog that also is a carrier of the same mutation, there is risk of having affected pups. For each pup that is born to this pairing, there is a 25% chance that the puppy will inherit two copies of the mutation and a 50% chance that the puppy will inherit one copy of the mutation and, in either case, may be susceptible to autoinflammatory disease. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups when bred to a dog that is also clear for this mutation.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Hayem G. Chinese Shar-Pei dogs: a model for human Mediterranean fever? Joint Bone Spine. 2013 Jul;80(4):353-4. [PubMed: 23622734]
  • May C, Hammill J, Bennett D. Chinese shar pei fever syndrome: a preliminary report. Vet Rec. 1992 Dec 19-26;131(25-26):586-7. [PubMed: 1287956]
  • Metzger J, Distl O. A study of Shar-Pei dogs refutes association of the 'meatmouth' duplication near HAS2 with Familial Shar-Pei Fever. Anim Genet. 2014 Oct;45(5):763-4. [PubMed: 25040095]
  • Metzger J, Nolte A, Uhde AK, Hewicker-Trautwein M, Distl O. Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC Genomics. 2017 May 4;18(1):348. [PubMed: 28472921]
  • Tellier LA. Immune-mediated vasculitis in a shar-pei with swollen hock syndrome. Can Vet J. 2001 Feb;42(2):137-9. [PubMed: 11272460]