Ochronosis and Alkaptonuria Treatment & Management

Updated: Feb 22, 2022
  • Author: Paul N Skiba; Chief Editor: Dirk M Elston, MD  more...
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Medical Care

Ranganath et al have shown that nitisinone 2 mg daily and 10 mg daily are beneficial in patients with alkaptonuria, with 10 mg displaying a greater decrease in HGA. The authors note that a diet lower in protein would likely improve safety with the higher dose. Nitisinone 10 mg was approved by the European Medicines Agency for adults with alkaptonuria in 2020. [8]  Nitisinone is approved in the United States for the treatment of children with tyrosinemia type I. It acts by inhibiting the enzyme 4-hydroxyphenyl pyruvic acid and therefore can decrease formation of HGA. [9]

Vitamin E and N-acetyl cysteine have been examined as novel potential therapies to prevent damage to articular cartilage. [4] Ochronotic arthropathy is treated with physiotherapy, analgesia, rest, and prosthetic joint replacement when necessary.

Exogenous ochronosis caused by topical hydroquinone use has been treated successfully with picosecond laser. [41]  


Surgical Care

With exogenous cutaneous ochronosis induced by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. [5, 6] Reports have described effective therapy with the Q-switched alexandrite 755-nm laser. [7]

Arthroscopy has been found to be effective in alleviating joint pain and improving mobility in cases of ochronotic arthropathy. [4] Knee, hip, shoulder, and other joint replacements may be needed if ochronotic arthropathy progresses substantially. Surgical intervention for prostate and renal stones may also be necessary. Aortic valve replacement is indicated in the case of aortic calcification and stenosis. [42]

Surgical replacement of cardiac valves may be necessary in cases of ochronosis. Selvakumar et al relate the case of a 72-year-old man with ochronosis and aortic stenosis necessitating aortic valve replacement with a bioprosthetic valve. The authors assert that the stenosis was not secondary to typical, idiopathic calcification but rather to calcification resulting from an inflammation response to the pigments. [43]   Aortic valve replacement in another onchronosis case was performed using a mechanical bileaflet valve. [44]



Consultations with a rheumatologist for the arthropathies that develop should be considered.

An expert in medical genetics may be of assistance in screening families for this autosomal recessive metabolic disorder.

Cardiac assessments, including echocardiography to detect aortic or mitral valve calcification and stenosis, are needed upon entering the fourth decade of life.