Ochronosis Treatment & Management

Updated: Mar 07, 2017
  • Author: Paul N Skiba; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

Although no present medical treatment is available for alkaptonuria, genetic advances offer hope that corrective measures are forthcoming. Some have advocated diets low in tyrosine and phenylalanine, thereby reducing the toxic byproduct homogentisic acid (HGA). Additionally, a diet high in vitamin C might prevent oxidation of homogentisic acid. Dietary changes have been advocated by some authors. [28]

One possible hope is that nitisinone proves effective. [29] The US Food and Drug Administration (FDA) has approved this drug for the treatment of tyrosinemia type 1. It significantly lowers the urinary excretion of HGA by inhibiting 4-hydrophenylpyruvate dioxygenase and, theoretically, would reduce HGA accumulation. Testing presently is assessing safety and long-term results.

Vitamin E and N-acetyl cysteine have been examined as novel potential therapies to prevent damage to articular cartilage. [23] Ochronotic arthropathy is treated with physiotherapy, analgesia, rest, and prosthetic joint replacement when necessary.

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Surgical Care

With exogenous cutaneous ochronosis induced by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. [30, 31] Reports have described effective therapy with the Q-switched alexandrite 755-nm laser. [32]

Arthroscopy has been found to be effective in alleviating joint pain and improving mobility in cases of ochronotic arthropathy. [23] 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. [33]

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Consultations

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.

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Activity

Activities are restricted in adult life because of arthritic complaints. Physical or occupational therapy may be indicated in the individual management of joint pain and in order to help with muscle strength and flexibility.

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Long-Term Monitoring

Patients with alkaptonuria need cardiovascular follow-up care upon entering their fourth decade of life.

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