Ochronosis can often be seen by the term alkaptonuria. The two words may 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 be the result of tyrosine buildup, but it can also occur when people are unable to break down phenylalanines. On rare occasions, this group of symptoms may be the result of 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 eyes, between the pupil and the outer corner. An obvious symptom could occur when the urine turns blue in babies which will be visible in their diapers. The ears can also have a blue coloration, as can the nose.
The blue color is not uncomfortable. More concerning is that cartilage tends to thicken over time and this can lead to arthritic conditions and the eventual need for joint replacement. In some people, the heart valves may also be affected, requiring valve replacement, and/or people have painful problems with the urinary tract.
Although life expectancy may not change for people with ochronosis, life can become increasingly uncomfortable as symptoms manifest and worsen. Unfortunately with conditions like alkaptonuria, there really isn't a treatment. Exogenous ochronosis may be helped by discontinuation of medication, and its presence on the skin can sometimes be eliminated with laser treatment.
In the absence of a cure for the endogenous types (from within the body), there is certainly treatment. People who have ochronosis benefit from the support of a doctor who can treat worsening arthritis and who can ensure that the heart and urinary tract remain in good health and are monitored to keep it that way. In the early stages, people may not need much treatment, except for the occasional dose of medication such as 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 follow a low-protein diet.