Test Detail
Shar Pei autoinflammatory syndrome (SPAID) / Shar Pei familiar fever
Inmunológico · Dog
Hereditary autoinflammatory disease of the Shar Pei, characterised by recurrent episodes of fever and inflammation. It is associated with the breed's wrinkled-skin phenotype and with an excess of hyaluronic acid in the skin and other tissues. It causes periodic fever, swelling of the lower eyelids (haw) and, in severe forms, renal amyloidosis with a risk of kidney failure. A complementary test, not a substitute, for the clinical examination.
Incidence
Affects the Shar Pei. Familiar fever is one of the most recognised conditions of the breed; the carrier frequency is not systematically published (limited data), but the predisposition is known in the population.
Breeder management
- Test breeding animals (MTBP G/A) before mating if the test is available
- Avoid mating two animals with the risk allele (G/A x G/A), which increases the proportion of higher-risk A/A homozygotes
- An affected animal should not be bred; assess genetic and clinical status before breeding
- Preserve diversity: as it is a frequent allele in the breed, selection should be gradual and not eliminate entire lines
- Monitor kidney function (urine protein/creatinine ratio and biochemistry) in animals with a history of flare-ups
- Avoid mating two animals with the risk allele (G/A x G/A), which increases the proportion of higher-risk A/A homozygotes
- An affected animal should not be bred; assess genetic and clinical status before breeding
- Preserve diversity: as it is a frequent allele in the breed, selection should be gradual and not eliminate entire lines
- Monitor kidney function (urine protein/creatinine ratio and biochemistry) in animals with a history of flare-ups
Specialist notes
The differential diagnosis includes infectious causes of fever and other autoinflammatory diseases. Secondary renal amyloidosis is assessed with the urine protein/creatinine ratio and renal ultrasound. Management of flare-ups may include colchicine and anti-inflammatory drugs, analogously to the treatment of human familial Mediterranean fever. Check which specific marker each laboratory offers.
References
1. Metzger J et al. 2017, Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC Genomics 18(1):348. PMID: 28472921. 2. Olsson M et al. 2016, Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics 17:299. PMID: 27107962. 3. Metzger J, Distl O. 2014, A study of Shar-Pei dogs refutes association of the 'meatmouth' duplication near HAS2 with Familial Shar-Pei Fever. Anim Genet 45(5):763-4. PMID: 25040095. OMIA:001561-9615.