Test Detail

Lundehund syndrome (LHS)

General · Dog

Molecular test for Lundehund syndrome (LHS), a hereditary chronic enteropathy of the Norwegian Lundehund that causes chronic diarrhoea, weight loss and protein-losing enteropathy with hypoalbuminaemia. It affects the gastrointestinal system and compromises nutritional status and survival. The test reports the clear/carrier/affected status for the corresponding variant.

Inheritance pattern	Autosomal recessive (recessive major-gene model; complex segregation analysis, Metzger et al. 2016).
Gene / Mutation	P3H2 (formerly called LEPREL1): NC_006616.3:g.22046092C>G / XM_535843.6:c.1849G>C / p.(E617Q), missense variant (OMIA Variant 103; OMIA002031-9615). Described in the Norwegian Lundehund (Metzger et al. 2016, PMID 27485430) and also documented in the New Zealand working dog (Huntaway/Heading dog; Smith et al. 2025, PMID 40965331).
Penetrance	Variable penetrance and expression; diet and response to immunomodulatory treatment modulate severity. The disease is highly prevalent in the breed but its clinical presentation can be intermittent.
Code	cdlc
Turnaround time	15 days
Price	52,60 €

Incidence

Applicable breed: Norwegian Lundehund. Clinical prevalence is high in the breed (published data place it as a major health problem); exact figures by country are limited and should be verified in the specific literature.

Breeder management

- Genotype breeding animals before mating\n- With confirmed autosomal recessive inheritance, do not mate two carriers and do not use affected homozygous animals in breeding\n- A carrier can be mated to a clear animal; test the offspring intended for breeding\n- Assess the gastrointestinal phenotype of the breeding animals\n- Given the population bottleneck, prioritise genetic diversity and avoid close inbred matings\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer

Specialist notes

Differential diagnosis with idiopathic inflammatory enteropathy (IBD), intestinal lymphoma, exocrine pancreatic insufficiency and malabsorption due to parasitosis. Confirmation by endoscopy/intestinal biopsy (lymphangiectasia) and biochemistry (hypoalbuminaemia, hypocholesterolaemia). Dietary management (digestible, low-fat), fat-soluble vitamin supplementation and immunomodulatory treatment in selected cases.

References

1. Flesjå K, Yri T (1977) Protein-losing enteropathy in the Lundehund. J Small Anim Pract 18:11-23. PMID: 853728
2. Metzger J, Pfahler S, Distl O (2016) Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome. BMC Genomics 17:535. PMID: 27485430
3. Pfahler S, Distl O (2015) Effective population size, extended linkage disequilibrium and signatures of selection in the rare dog breed lundehund. PLoS One 10:e0122680. PMID: 25860808
4. Smith F et al. (2025) Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet. PMID: 40965331
5. OMIA:002031-9615 — Lundehund syndrome in Canis lupus familiaris (dog).

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