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Posted: December 26th, 2019
Abstract
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Ochronosis is typically a disease that would describe only a blackish-clue pigment that occurs in the skin. However, Ochronosis is also the hardening of the cartilages in the body. Also called Alkaptonuria, Ochronosis can affect the body in various ways and it can cause a lifetime of pain. It is an extremely rare disease that affects only a small portion of the population worldwide. This disease can be passed down from family member to family member. It has no cure but there are ways to help manage the symptoms people have. While it will never go away, people can learn to manage their symptoms and live with the disease.
Ochronosis Description, Epidemiology and Diagnosis
Ochronosis also called Alkaptonuria is a rare autosomal recessive disease that can affect many parts of the body. It was first mentioned in 1584 by Scribonius who made mention of a boy who had urine that was the color of ink. Ochronosis is normally seen with this sign, as it is a disease that can affect the pigments of the body (Al-Mahfoudh, Clark, and Buxton 2008). However, it does not only affect pigment, it can also cause hardening of the intervertebral discs anywhere in the spine. There are two types of Ochronosis; there is exogenous Ochronosis and endogenous Ochronosis. Very different aspects cause these diseases; exogenous is caused by overexposure to chemicals like hydroquinone, phenolic compounds, benzene substances, and oral antimalarial. Comparatively, endogenous is caused by Alkaptonuria. This is a rare autosomal recessive disorder (Collins & Hand 2005). Ochronosis and Alkaptonuria are essentially the same disease, the only difference is that Ochronosis describes the blue pigment that affects the skin, it does not matter what the cause is (Arisoy 2017). As exogenous Ochronosis is only the abnormal deposit of blue-black pigment in the skin, this paper will focus on Endogenous Ochronosis and Alkaptonuria (Collins & Hand 2005).
Anatomy. Ochronosis can affect places in the body like large joints and the spine. It can also change the skin, instead of its natural color; Ochronosis will turn parts of the skin into blue-black pigmented areas. However while it affects the different joints it does not change the sacroiliac joint (Al-Mahfoudh & Clark & Buxton 2008). Ochronosis can result in homogentisic acid in the cartilage, eyelids, forehead, cheeks, axillae, genital areas, buccal mucosa, larynx, in the ear, and in the tendons of the body. This means that there is no one place that is not affected by the disease. It can also be seen in the connective tissue as deposits of blackish or brown pigments. Typically changes in the body can be seen around the age of 40 years old (Turgay, Canat, Gurel, Yuksel, Baran, and Demirkesen 2009).
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Characteristics. This disease can cause kyphosis, loss of height, decreased range of motion in the spine, and it can cause effusions. It can resemble arthritis and ankylosing spondylosis, which can also lead to misdiagnosing the disease. However, the symptoms that affect the joints typically do not occur until the person is in their 30’s or 40’s, it will continue to worsen until the pain leads to a replacement of a knee, a hip, or a shoulder (Al-Mahfoudh & Clark & Buxton 2008). Pigmentation of the skin is seen, as is dark urine. Ochronosis can also lead to back pain, stiffness in the back, and a crippling sensation (Arisoy 2017)
Epidemiology
Prevalence. Alkaptonuria occurs worldwide but a high prevalence was found in Slovakia, where the estimation is 1 out of 19,000 (Introne & Gahl 2003).
Incidence. The incidence of Alkaptonuria is that 1 in 250,000 to 1 in 1,000,000 people are affected by it (Al-Mahfoudh, Clark, and Buxton 2008). However, this can be increased with interfamilial marriages.
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Frequency. The frequency could not be found, nor could it be distinguished. This is because newborn screening for the disease has decreased exponentially. In addition, another reason is that carriers may have more of the enzyme activity that leads to Alkaptonuria but never show the signs or symptoms of having the disease (Roth 2017).
Diagnosing
Signs. Some signs of Alkaptonuria include dark urine, kyphosis, height loss, loss of range of motion. Although loss of motion can also be a symptom as it is felt by the person and seen by a medical professional (Al-Mahfoudh, Clark, and Buxton 2008). Radiographically, a sign of this disease would be the discs of the spine seen as dense material, almost radiopaque, instead of unseen as they normally would be. This can be seen in the image below, it is a lateral image of the lumbar spine of a patient who suffers from Ochronosis. The disks are white in the image when normal disks are seen as black.
Case courtesy of Dr Mohammad Taghi Niknejad, Radiopaedia.org, rID: 61667
Symptoms. Some symptoms that are felt by the person with Alkaptonuria would be anything that the person feels while inflicted with the disease. This can include any stiffness in the back or limbs, any kind of loss of motion in the back or neck (Arisoy 2017). There is also chronic pain that the person would feel, this could be in the joints or in the back (Collins & Hand 2005).
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Causation. This disease is caused by a mutation that allows homogentisic acid (HGA) to build up in the body, the mutation occurs in a gene. This mutation comes from previous generations and is passed down. The parents must first be carriers of the disease, and while it is recessive, the person would have to receive both genes in order to gain the mutation (Arisoy 2017).
Classification. This disease can be classified as both chronic and hereditary. This disease only grows in people who have the mutation in the genes form their parents, therefore it is hereditary. It is chronic because this disease will never go away, once a person gains Ochronosis they will have it for the rest of their lives (Arisoy 2017).
Manifestations. This disease can lead to a build-up ofHGA, which can lead to damage in the heart; it can also lead to an increased chance of having kidney stones. HGA can also lead to osteoarthritis; this will cause damage to the cartilage in the joints (Simmons, Griffith, Bray, Falto-Aizpurua, and Nouri 2015). Another manifestation of Alkaptonuria is Ochronotic arthropathy, which is another name for Ochronosis (Al-Mahfoudh, Clark, and Buxton 2008).
Tests and Procedures. In order to properly diagnose Ochronosis, a laboratory study must be ordered. This will allow the professionals to collect urine samples and therefore identify HGA in the sample. Along with a lab study, imaging studies are also ordered, specifically images of the spine are ordered to view the discs and their physical state. A chest radiograph may also be ordered to look at the aortic and mitral valves, this is to see any calcifications that may have occurred. Professionals may also an electrocardiogram to visualize any myocardial insufficiency (Roth 2017).
Treatment. Treatment for this disease can vary depending on the severity of the issue. One way to treat Alkaptonuria is to reduce the amount of phenylalanine and tyrosine; this can help to reduce the amount of HGA excretion in the body. By reducing the HGA, it can lessen the symptoms the person feels. However, some people may require that they have a joint replacement; this is only when the area becomes too inflicted. There is no final say on what the best treatment for this disease, there are only ways to help reduce the pain someone feels and to reduce the symptoms (Roth 2017).
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Prognosis. People who have Ochronosis or Alkaptonuria are expected to live a normal life, there will be chronic pain and it will change the quality of life for the person (Arisoy 2017). Those with the disease are able to live the same expected lifespan as others but they will have limitations.
Morbidity. Morbidity can vary as not many people feel the same at the same age. About 50% of affected people will have an issue with the discs in their spines, and at least half of the people will undergo some joint replacement surgery, but again this can vary case by case (Roth 2017).
Mortality. There is no mortality rate for Ochronosis/ Alkaptonuria, the life expectancy is the same as healthy individuals (Roth 2017).
References
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