Disorder - Porphyria, unclassified

Organ Systems Involved
Cardiovascular

Presenting Signs

The group of disorders called porphyrias occur when there is a defect in the body’s ability to make haem in the red blood cells. Haem is an essential component in a number of biological processes. Porphorins are compounds required in the body to make haem. The condition, porphyria, may arise due to a defect in functioning of the liver, or during the production and assembly of red blood cells.

This inherited defect results in an excess of porphyrins circulating in the blood. This causes several characteristic conditions which include: photosensitisation (increased sensitivity to sunlight), anaemia (a decrease in circulating red blood cells) or kidney disease. These conditions arise because the excess porphyrins are deposited in these tissues, and this prevents the organs from functioning normally. Another sign of porphyrin deposition includes a yellow-brown discolouration of the teeth, bones, liver, spleen, kidneys and urine. The discolouration causes these organs and urine to fluoresce a bright orange-pink colour under ultraviolet light.

Breeds Affected
Siamese


Treatment

None. All cases reported in the veterinary literature have been fatal. The cause of death is related to the severe anaemia and kidney failure.

PubMed References
Porphyria, unclassified

Contributor
Neil Christensen