alkaptonuria

Ochronosis

Definition

 

Degenerative arthropathy due to Alkaptonuria

 

Metabolics

 

Rare hereditary disorder of tyrosine and phenylalanine breakdown

 

Homogentisic acid enzyme deficiency

- accumulate Homogentisic Acid

- product of tyrosine breakdown

 

Homogentisic acid deposited in cartilage & other soft tissues

- polymerises 

Inflammatory Arthopathies

Gout

 

No pathognomonic signs for gout

- identification of negative birefringent crystals under polarising light 

- trial of indomethacin if suspected

 

Inflammatory Bowel Disease / Enteropathic

 

Crohn's & Ulcerative Colitis

- spinal manifestation similar to Ankylosing Spondylitis

- 15-60% of IBD

 

Two different forms

- mild & asymptomatic