Ochronosis is a symptom of the rare genetic disorder alkaptonuria, where the body cannot process tyrosine, leading to darkening of cartilage, skin, and eyes. It can also occur from other causes, including medication. While there is no cure, treatment can help manage symptoms such as arthritis and urinary tract problems.
Ochronosis can often be seen under the term alkaptonuria. The two words can be used together and are sometimes considered interchangeable, or the former is described as the predominant symptoms or manifestations of alkaptonuria. In alkaptonuria, a rare genetically inherited disorder, the body is unable to process the amino acid tyrosine and this leads to a variety of symptoms that gradually worsen and cannot be cured. The symptoms are called ochronosis, but the symptoms can also occur from other causes. This simply means that the relationship between the two conditions is not exclusive.
As mentioned, ochronosis can result from tyrosine buildup, but it can also occur when people fail to break down phenylalanines. In rare cases, this group of symptoms can result from an exogenous or external factor. The use of certain medications such as hydroquinone has been shown to induce the condition, but this reaction is extremely rare.
The expression of ochronosis is usually associated with symptoms such as darkening of certain parts of the cartilage, skin and eyes. There may be dark blue pigment present in the eye, between the pupil and the outer corner. An obvious symptom could be when urine turns blue in babies which will be visible in their diapers. The ears can also have a blue coloration, as well as the nose.
The blue color is not uncomfortable. Of greater concern is that the cartilage tends to thicken over time and this can lead to arthritic conditions and the eventual need for joint replacement. In some people, heart valves may also be affected, requiring valve replacement, and/or people have painful urinary tract problems.
While life expectancy may not be altered for people with ochronosis, life can become progressively more uncomfortable as symptoms develop and worsen. Unfortunately with conditions like alkaptonuria, there really isn’t a treatment. It is possible that exogenous ochronosis may be helped by discontinuation of the drug, and its presence on the skin is sometimes removed by laser treatment.
In the absence of a cure for endogenous types (from within the body), there is surely a treatment. People who have ochronosis benefit from the support of a doctor who can treat worsening arthritis and who can make sure that the heart and urinary tract are kept healthy and monitored to stay that way. In the early stages, people may not need much in the way of treatment except for the occasional dose of medication like ibuprofen to relieve minor joint pain. Vitamin C therapy may also be helpful, and if the disease is caught early, many doctors recommend that people eat a low-protein diet.
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