SPAID Shar Pei Autoinflammatory Disease
SPAID (Shar Pei autoinflammatory disease), also known as Familiar Shap Pei Fever (FSF), is an inherited disorder specific to affect this dog breed. The disorder is characterized by spontaneously occurring inflammation symptoms such as fever, swollen joints, ear and skin problems and arthritis. SPAID is equivalent to familial Mediterranean fever (FMF), or reccurent fever syndrome, in human patients.
Symptoms and characteristics
The average age of first symptoms occurence is around 2.7 years of age, however, it is possible for symptoms to occur earlier and also later. Earliest symptoms were recognized in a dog of 18 months of age. Clinical signs include combinations of inflammatory types fever, arthritis, erythema, ear and skin problems, such as thickened and pasty skin, otitis, eye inflammation and intestinal inflammations. In severe cases of the disorder, renal failure may occur. In such severe cases, dogs are usually euthanized for humane reasons.
Histopathologic examination reveals accumulation of amyloid in the salivary gland, liver, pancreas, kidney and other organs. Also, inflammatory processer in the skin can be observed.
Shar Pei Autoinflammatory disease (SPAID) has been linked to mutations within MTBP gene. Mutation within this gene results in alteration of binding affinity of MTPB protein to MDM2, and induction of proinflammatory effects. It is assumed that gene locus responsible for thick and wrinkled skin, which is associated with hyaluronan synthesis, in Shar Pei might be close to causative variant for SPAID. The disorder is inherited in an autosomal dominant pattern with incomplete penetrance.
Metzger, J., Nolte, A., Uhde, A. K., Hewicker-Trautwein, M., & Distl, O. (2017). Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC genomics, 18(1), 348. doi:10.1186/s12864-017-3737-z
Olsson, M., Kierczak, M., Karlsson, Å., Jabłońska, J., Leegwater, P., Koltookian, M., … Meadows, J. R. S. (2016). Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics, 17(1). doi:10.1186/s12864-016-2619-0