Patients with rare disease of alcaptonuria, known as black bone disease, will have a unique nitisinone treatment available from 1 September, which will also be categorised for this diagnosis. Alcaptonuria is an inherited metabolic disorder which, due to genetic mutation, results in the body's inability to metabolize the amino acid tyrosine and build up of toxic pigment in cartilage and bones. It is also called black bone disease.
Categorisation committee At the initiative of the patient organization and the National Institute of Rheumatic Diseases in Piešťany (NURCH), the Ministry of Health of the Slovak Republic approved treatment in full reimbursement for patients with alcaptonuria. The use of nitisinone is currently indicated only in patients with a confirmed diagnosis of hereditary tyrosinemia. The European Medicines Agency has also recommended the use of the medicine in patients with alcaptonuria.I am very pleased that Slovak patients with this rare disease will also receive new treatment that will significantly improve their quality of life. The Categorisation Commission unanimously recommended the approval of a fully-paid treatment for patients with alcaptonuria, stated State Secretary MZ SR Róbert Babeľa. The cure for this disease will be available to patients at the National Institute of Rheumatic Diseases. It is extremely important for the constitution to provide our patients with high quality and affordable healthcare, and nitisinone is a great example of the first effective treatment of hitherto incurable alcaptonuria. The decision of the Categorisation Commission is for us also the completion of more than 10 years of research and clinical work which has led to the approval of this medicine not only in Slovakia but throughout the EU. stated Director NÚRCH doc. MUDr. Richard Imrich, DrSc. Slovakia is among the countries with the highest number of patients with alcaptonuria per population, occurs mainly in Kysuce and Orava. Over 200 patients suffer from it. In addition to Slovakia, black bone disease also plagues the inhabitants of Jordan, Dominican Republic or India. However, the reason for this has not yet been clarified by scientists. Patients who are not treated have a black colour of bone cartilage. That's why the patient organization that brings these patients together is called the Black Bones Club. On behalf of the members of the Club of the Black Bones, I would like to express my thanks to all the competent persons and institutions of the Slovak Republic who contributed to the decision on the priced AKU-treatment. stated his President Anna Antalová. One of the first signs of the disease is dark urine or dark coloration of the ear cartilage. Other symptoms usually occur around the 30th year of life when relatively large amounts of homogenisic acid are already accumulated in the body. Up to 99 percent of the total production of this acid is excluded, but this is the only percentage that causes cartilage tissue, tendons, joints and
The bones store a black pigment (free eye is a dark coloration visible in the ears, nails and nose, on the whites of the eyes blue-gray-black spots, rare also black spots on the skin or black-coloured sweat). Bones and joints lose strength and density over time, which increases the risk of fractures, vertebrae of the spine can become calcified. Over the years, it causes extremely painful joint breakdown and damage to the heart, lungs and other organs.