ISSN 2398-2950      

Feline porphyria syndromes

ffelis

Synonym(s): Osteochromatosis, Pink tooth


Introduction

  • Porphyria syndromes are rare disorders that arise from the accumulation of intermediate components of heme synthesis (porphyrins).
  • Feline porphyria is extremely rare, but two types have been described:
    • Congenital erythropoietic porphyria (CEP) and
    • Acute intermittent porphyria (AIP).
  • CEP is an erythropoietic porphyria while AIP is an hepatic porphyria.
  • Cause: rare inborn error of heme biosynthesis.
  • Signs: red urine, discolored teeth, hepatosplenomegaly.
  • Diagnosis: DNA test and molecular analysis.
  • Treatment: symptomatic treatment.
  • Prognosis: guarded.

Pathogenesis

Etiology

  • Hereditary defect causing accumulation of heme precursors in tissues:
    • Both autosomal recessive and autosomal dominant inheritance patterns have been reported in cats.

Pathophysiology

  • CEP:
    • Severe deficiency in uroporphyrinogen III synthase (UROS) activity which is required for the production of heme.
  • AIP:
    • Increased concentrations of porphyrin precursors 5-aminolevulinic acid (ALA) and porphobilinogen (PBG) in plasma and urine.
  • Porphyrinogens accumulate in large amounts and can become pathological.
  • Accumulations of porphyrinogen in the bone marrow can lead to cell damage and hemolysis.

Timecourse

  • Variable - signs may be present from birth or develop as late as 9 years of age.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed Papers

  • Recent references from PubMed and VetMedResource.
  • Clavero S, Bishop D F, Kwait B, Haskins M E, Giger U, Desnick R J (2013) Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J 198(3), 720-722 PubMed.
  • Clavero S, Bishop D F, Giger U, Haskins M E, Desnick R J (2010) Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med 16(9-10), 381-388 PubMed.
  • Schnier J J, Hanna P (2010) Feline porphyria associated with anemia, severe hepatic disease, and renal calculi. Can Vet J 51(10), 1146-1151 PubMed.
  • Giddens W E Jr, Labbe R F, Swango L J, Padgett G A(1975) Feline congenital erythropoietic porphyria associated with severe anemia and renal disease. Clinical, morphologic, and biochemical studies. Am J Pathol 80(3),367-86 PubMed.

Organisation(s)

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