Prof. Żuber: The treatment was effective. I hope it will be available in Poland soon
Bone mineralization disorders, their deformations, cracks, fractures, pain, abnormal development leading to progressive disability, premature loss of teeth, abnormal structure of the chest – these are some of the symptoms of hypophosphatasia: an ultra-rare genetic disease. Enzyme replacement therapy is a chance for proper functioning – says prof. Zbigniew Żuber.
Prof. Zbigniew Żuber, head of the Clinical Department of Pediatrics and Rheumatology of the Children’s Hospital. Saint Ludwika in Kraków, president-elect of the Polish Rheumatological Society, emphasizes that hypophosphatasia is not only a bone disease, but a metabolic disease affecting the entire body. – A genetic mutation causes abnormal function of alkaline phosphatase, one of the enzymes that influence bone mineralization. Disturbance of one enzymatic pathway causes a whole range of metabolic changes in the body. It is a systemic disease – emphasizes prof. Bison.
Diagnostic odyssey
In Poland, hypophosphatasia has so far been diagnosed in approximately 25-30 people. These are certainly not all sick people. One of the problems with this disease is the “diagnostic odyssey”: patients often go undiagnosed for many years, even though the test that may suggest the disease is simple. – If there are any suspicions of skeletal abnormalities, the concentration of alkaline phosphatase should be determined. When interpreting, however, you need to pay attention to the norms depending on age. If the results are incorrect, the patient must be referred to a center, e.g. a rheumatology center, which will perform more precise diagnostics – emphasizes Prof. Bison.
Even though the disease is ultra-rare, experts distinguish six forms of it. The earlier visible symptoms appear, the more severe the course. The most severe form is the perinatal form, which affects newborns and usually ends in death very quickly if breathing difficulties occur due to a deformed chest.
Enzyme replacement therapy
– The success of medicine is that we have treatment available today. We hope that this treatment will soon be widely available in Poland, says Prof. Bison.
The effectiveness of the treatment can be seen in the example of 12-year-old Ola, who has been receiving enzyme replacement therapy for several years. The girl was diagnosed with the disease when she was 2.5 years old. Previously, she was hospitalized several times due to fractures, underwent orthopedic surgery, and her milk teeth fell out. Before she received treatment, her condition was so bad that she no longer had the strength to walk. Today she goes to school, rides a bike, and her passion is dancing. – The example of the girl shows that treatment implemented early enough gives a chance to stop the disease and ensure proper development – says Prof. Bison.
He also emphasizes that a lot has changed in the treatment of rare diseases in recent years, thanks to cooperation with the Ministry of Health. – Every patient should have the opportunity to receive treatment if it is available and effective. Of course, much depends on the financial capabilities of the state, but we are already a rich enough country and we have such opportunities that we are able to devote more attention to patients with rare and ultra-rare diseases, such as hypophosphatasia – emphasizes Prof. Bison.
The entire conversation with prof. Zbigniew Żuber can be seen:
