Copper Storage Disease

CSD is a serious disease that affects many breeds, and may be hereditary in some, including Dalmatians. This disease typically does not show obvious symptoms in the earlier stages. Unfortunately, when symptoms of this disorder do appear they are common to many diseases which include several liver diseases, so it may be easy to overlook CSD as the potential cause at the onset. It is very important to let your veterinarian know that CSD could be one of the diagnoses because many veterinarians will not consider it early on for Dalmatians. Early diagnoses and treatment are crucial to positive outcomes. DCAF has developed the

Copper Storage Disease pamphlet

that all Dalmatian owners should become familiar with and share with their veterinarians. All breeders should provide this pamphlet in their new puppy packs to puppy buyers. 

CSD affects a small percentage of Dalmatians, but research has shown that it crosses many breeding lines so could occur with almost any. If not diagnosed and treated early, it can be fatal. For these reasons, DCAF has invested heavily in ongoing research to identify the Dalmatian specific genetics that cause it and develop a test to identify carriers and/or affected dogs. If successful, this will be an invaluable tool for breeders to use to help minimize the incidence of the disease in our breed.

The study indicates that in the Dalmatian breed, CAH is more complex than the single-gene disorder observed in copper toxicosis in the Bedlington Terrier and might
be more akin to the complex CAH seen in the Labrador Retriever, observed by other researchers, with several gene variants potentially at play. ATP7B gene variants may
affect the function of the ATP?B copper pump and lead to hepatic copper accumulation in some Dalmatians. In the absence of clear gene-to-CAH findings, and the heightened awareness of CAH beyond specific breeds, the influence of environmental copper must also be considered, and it would be prudent for concerned owners to discuss lower copper diets with their veterinarian.

Copper Storage Disease Presentation (Slide PDF) by Dr Twedt – DCA National Specialty, May 2018

Dalmatian CSD Study Update:

The follow-up study of Dalmatian CAH is nearing completion. In an update regarding the relevance of available genetic testing for canine copper storage
disorders, the COMMD1 deletion, the causative mutation for copper toxicosis in the Bedlington Terrier has not been observed in the Dalmatian study population.
While the CAH-associated ATP7B variant, previously identified in the Labrador Retriever 1 , has now been observed in a sub-set of CAH-affected Dalmatian
families. The variant was identified in a heterozygous format in Dalmatians with high, intermediate and low copper values. Therefore, the contribution of this
ATP7B variant to CAH in the Dalmatian remains unclear, but it cannot be ruled out. Most of the recruited Dalmatians with CAH do not carry this variant.
As Dalmatians are clearly at risk of developing CAH, owners should continue to closely monitor the liver health of their dogs and avoid high copper intake,
regardless of the outcome of the commercially available ATP7B genetic test.

1. Fieten H, et al The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador
retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech. 2016
Jan;9(1):25-38. doi: 10.1242/dmm.020263. PMID: 26747866; PMCID: PMC4728329.