Ochronosis is a relatively rare hereditary disease that is associated with metabolic disorders in the body. In a person diagnosed with ochronic disease, a deficiency of the enzyme substance of homo-gentinase is observed: this causes interstitial deposits of homogentisic acid. Externally, this is manifested by a change in the shade of the skin, the eye cornea,
Epidemiology
Ochronosis is considered a genetic disease, and it is rarely found. So, according to the latest statistical data, ochronosis is diagnosed in one case out of 25 thousand.
It was revealed that the highest incidence of ochronosis is registered in the Czech Republic, Slovakia and the Dominican Republic.
Hereditary ochronosis more often affects the male population.
Causes of the ochronic disease
Ochronosis is a genetic enzymopathy that occurs in a baby in utero, provided it has a mutated parental gene.
Organic matter - homogentisinic acid - is formed after the decomposition of phenylalanine to form tyrosine and hydroxy-phenyl-pyruvic acid.
With the course of metabolic processes, homogentisic acid in a healthy person is gradually transformed into maleic-acetoacetic acid, fumaryl-acetoacetic acid, as well as fumaric and acetoacetic acids. But in the presence of a mutated gene, the amino acid exchange stops at the stage of homogentisinic acid formation.
In people with ochronosis, the following risk factors influence the production of homozygosinase enzyme:
- nucleotide substitutions;
- splicing mutation, when the nucleoside phosphate G changes to A, or T;
- insert insertion of nucleotides;
- combined mutations (nucleotide insertions in combination with deletions).
Pathogenesis
Due to mutational changes in genes during ochronosis, homogentisinic acid, which stopped its metabolic reactions, is re-formed into a pigment substance, an alkapton is a kind of quinone polyphenols.
Alkapton begins to be massively withdrawn through the urinary system (about 5-7 g daily). The residual amount of pigment is gradually accumulated in the tissues, which explains their darkening and fragility.
The joints, cartilage, mucous tissues, ligamentous apparatus, sclera suffer more than others. Heart valves, myocardium, and vascular endothelium also change.
The accumulation of pigment in ochronic disease leads to the formation of stones - deposits in the prostate and kidneys. In the future, inflammatory reactions join, first of all, in the joints.
Symptoms of the ochronic disease
The first signs of ochronic disease are detected already in the period of newborn: due to the high level of alkapton, the urinary fluid becomes very dark, up to brown and dark brown in color.
Additional symptoms of ochronic disease appear much later - in a few dozen years, when the content of alkapton in tissues will be limiting. For example, the defeat of cartilaginous tissue and joints is found after 30 years of age.
Common signs of ochronic disease are as follows:
- The skin of the patient darkens especially on the face, in the neck, on the stomach and in the groin.
- The shells of the ears acquire a bluish tinge and condense.
- In the area of the sclera, inclusions and specks of dark color become noticeable.
- There are diseases of the joints and the spinal column. This can be seen from the difficulty of movement in the joints, dull soreness in the back (especially with physical exertion).
- There are painful sensations during ingestion of food or even saliva, which is the result of the deposition of alcaffon in the laryngeal cartilage.
- There are diseases of blood vessels and vascular valves.
- Stones are formed in the kidneys, and in men - in the prostate gland.
Stages
The accumulation of pigmented substance in the tissues of the joints with ochronosis leads to the development of arthroses and deformations with time. Articular pathology proceeds through certain stages:
- Puffiness, which is a sign of a reactive synovitis;
- crepitus;
- limited motor function;
- development of flexion contracture.
Most often with ochronosis, hip joints, shoulders, knees, as well as the articulation and sacral department are affected.
Forms
Ochronosis can be of several types:
- Genetic ochronosis inherited by an autosomal recessive pathway. It is formed due to a gene mutation with a disruption in the production of the enzyme responsible for the cleavage of tyrosine and phenylalanine.
- Symptomatic ochronosis. Appears in acute deficiency of ascorbic acid in the body.
Complications and consequences
Ochronosis can be complicated by such painful conditions:
- the formation of kidney stones, the development of pyelonephritis - an inflammatory process of bacterial etiology, which occurs with fever, pain in the lower back;
- stiffness of the spine and joints, up to the total loss of motor function;
- damage to the heart valves, heart failure.
Diagnostics of the ochronic disease
In order to diagnose ochronosis, it is necessary to conduct an examination of the patient, as well as to assign a number of diagnostic procedures and studies.
- The examination of the patient makes it possible to pay attention to the main symptoms of the disease. In this case, the color of the urinary fluid has an important diagnostic value.
- Urinalysis using enzyme spectrophotometry and chromatography will help to assess the level of homogenesin and benzoquinoacetic acid.
- Analyzes of genetics - PCR - will help to identify a defective gene.
- Roentgen of the spinal column will allow visualizing calcifications, reducing intervertebral spaces and sclerosis of the vertebrae.
- Instrumental diagnosis of joints (ultrasound and x-ray) demonstrates a decrease in joint spaces, the presence of osteophytes, a change in the structure of the cartilaginous and soft tissues. Additionally, arthroscopy can be prescribed to confirm cartilage pigmentation in ochronic disease.
- Ultrasound of the prostate and kidneys confirms or excludes the presence of deposits.
- Aortography and echocardiography will indicate the presence of pathologies of the cardiovascular system.
- Laryngoscopy will allow us to consider the shade of the laryngeal cartilage.
- A puncture with a synovial fluid intake will detect the alcapone.
In addition, it is important to distinguish between genetic and symptomatic ochronic disease, since the symptomatic disappears completely after the cause of its appearance has been eliminated (for example, when a deficiency of ascorbic acid is replenished).
Treatment of the ochronic disease
To date, there is no adequate scheme for treating ochronosis. Scientists continue to work on finding a drug that can replace the missing enzyme substance in the body.
Due to the lack of specific treatment of ochronic disease, a doctor can prescribe only symptomatic therapy aimed at reducing painful manifestations. For example, if ochronosis affects the joints and spine, such medications can be used:
- Nonsteroidal anti-inflammatory drugs (indomethacin, diclofenac, etc.).
- Steroid drugs that are characterized by prolonged exposure (intra-articular administration with severe pain, but no more than 1-2 times per year).
- Medicines based on hyaluronic acid (with significant damage to the joints).
- Chondroprotective drugs that prevent the destruction of cartilaginous tissue.
- Medications-muscle relaxants, eliminating muscular tension in the spine.
- Spasmolytics (with damage to the urinary system).
- Vitamins - in particular, vitamin C, involved in the processes of the decomposition of tyrosine, and prevents the deposition of metabolic products in tissues in ochronic disease. Ascorbic acid is prescribed in high doses - 500-600 mg / day.
Surgical treatment - joint prosthesis - is only used with a significant deformation, which leads to loss of motor function in ochronic disease.
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Dosing and Administration |
Side effects |
Special instructions |
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Diclofenac |
Tablets are taken with ochronosis in an amount of 25-50 mg to three times a day, after eating. |
Pain in the abdomen, indigestion, pain in the head. |
Tablets can be given to children from six years of age. |
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Chondroxide |
Ointment or gel is applied in ochronic disease up to 3 times a day on the affected joints. |
Rarely, allergic reactions. |
The drug is not used to treat mucous membranes. |
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Drotaverine |
Tablets are taken with ochronosis 40-80 mg three times a day, with spasms and pains. |
Dizziness, dyspepsia, allergies. |
The drug can cause a drop in blood pressure. |
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Midokalm |
Tablets are taken with ochronosis 50-150 mg to three times a day, with a gradual increase in dosage. |
Myasthenia gravis, pain in the head, lowering of blood pressure, unpleasant sensations in the abdomen. |
The drug can be used in children from 3 years. |
Physiotherapeutic treatment
Ochronosis, which is accompanied by joint damage, can be helped by magnetotherapy, in which local heating not only of the joint but also of the nearest muscles and ligaments occurs. The procedure promotes stimulation of blood circulation, elimination of edema, increase of cellular immunity, activation of the mechanism of tissue repair.
Ultrasound treatment is a procedure that directly affects the course of ochronic disease, as it improves the nutrition and blood supply of tissues. Ultrasound helps reduce signs of inflammation, restore cartilaginous tissue.
In addition to magnetotherapy and ultrasound treatment, a good effect in ochronic disease can be expected from hydrogen sulphide and radon baths. Such baths increase blood circulation, improve the quality and quantity of synovial fluid, facilitate the work of the cardiovascular system.
Alternative treatment
If a patient with ochronic disease is found to have damage to the kidneys and joints, then he can recommend using alternative means to relieve unpleasant symptoms. Alternative means will not relieve such a disease as ochronic disease, completely, but can improve the patient's well-being.
- Every morning, on an empty stomach, you should drink 50 ml of fresh radish juice.
- In the spring, in the midst of the season of birch sap, it is necessary to drink it daily without restrictions. At other times of the year, you can replace the juice with infusion of corn stigmas.
- Quality home-made vinegar in ochronic disease can be taken every morning on an empty stomach for 1 tsp, dissolving in 200 ml of water. Duration of admission is 1 month. The remedy is not suitable for those people who have problems with the digestive system.
- Favorable effect on the joints in ochronosis has a laurel broth. To make it, you need to take 20 g of bay leaves, put in boiling water (300 ml) and keep on low heat for a few minutes, then cover and let it cool down. Such a medicine should be drunk before going to bed. Every day, prepare a fresh fresh broth.
Herbal Treatment
For the auxiliary treatment of ochronic disease, grasses are often used which have analgesic, anti-inflammatory, firming, bactericidal and virosostatic properties.
- Elder color 10 g, birch leaves 40 g, willow bark 40 g insist in 1 liter of boiling water. Drink half the glass 4 times a day before meals.
- Elder color 10 g, nettle leaf 30 g, rhizome of parsley 30 g, willow bark 30 g insist in 1 liter of boiling water. Take half the glass 4 times a day before meals.
- Birch leaves 20 g, nettle leaf 20 g, violet grass 20 g are brewed in 500 ml of boiling water. Take half the glass up to 6 times a day before meals.
During the day with ochronosis it is recommended to drink vitaminized tea based on currant leaves, wild rose berries. It is advisable to drink this drink at least 2 times a day.
Homeopathy
The use of homeopathic remedies for ochronosis - both monopreparations and composite homeopathic compounds - allows achieving a stable period of relief. An additional advantage of such treatment is the absence of side effects and addiction to medicines. However, appoint such drugs can only an experienced doctor who specializes in homeopathy.
- If you are concerned about burning and joint pain, Apis will help.
- If joint pains are manifested only in motor activity, Brionia is appointed.
- In cases of arthritis and significant metabolic disorders, Fitollyak is used.
- With joint deformities due to arthritis, Sulfur is prescribed.
- With pain associated with changing weather, Dulcamara helps.
These drugs usually take a long time, for several months. More precise information can be obtained from the attending physician-homeopath.