Congenital Dyserythropoietic Anemia and Polymyopathy

Affected dogs may have microcytosis (small red blood cells) found as an incidental finding on blood work for routine procedures. As the dog becomes an adult, periodic episodes of hind leg weakness and regurgitation secondary to megaesophagus (abnormally enlarged esophagus) may be seen.

Blood work changes can be found before a year of age. Other clinical signs develop in adulthood, with both littermates in the study presenting to specialists at five years of age.

This condition is diagnosed with physical and neurologic examinations, blood work, a bone marrow evaluation, radiographs, and muscle biopsy.

Symptomatic treatment for megaesophagus can be provided, including anti-nausea medications. Megaesophagus increases the risk of respiratory infections secondary to food aspiration. Antibiotics may be provided if this is suspected.

Talk to your vet about your dog’s congenital dyserythropoietic anemia and polymyopathy result so you can discuss monitoring and supportive care.

If your dog has trouble swallowing or keeping food down, hand feeding, using elevated food dishes, or feeding in a Bailey chair can help reduce the risk of aspiration.

Offer smaller, more frequent meals and watch for coughing or regurgitation, which may indicate complications such as secondary respiratory infection.

Keep your dog’s environment as calm and stress-free as possible, and provide soft bedding and gentle exercise to support their comfort and mobility.

This variant was first described in the Labrador Retriever, although a similar condition was first described in the English Springer Spaniel. The affected ESS do not have the same variant.

Penetrance: This variant is inherited in an autosomal recessive manner, meaning a dog requires two copies of the variant to show signs of anemia and polymyopathy.

Gene

EHPB1L1 Exon 5

Inheritance type

recessive

Clinical category

Multisystem

Citations

1. Shelton et al 2022
2. Thomas-Hollands et al 2021

• Labrador Retriever
• English Labrador Retriever