April is the month of awareness building about Fabry disease, a rare genetic disease that, if left untreated, can lead to severe damage to the heart, kidneys and brain. Experts say about who it affects, why it is so difficult to diagnose and how it can be stopped.
- The situation of people suffering from a rare genetic Fabry disease in Poland is extremely difficult
- Due to low public awareness of ultra-rare diseases, many people go undiagnosed
- Effective therapy in the treatment of this disease exists, but it is still unavailable to several dozen patients in Poland
Fabry disease is a rare genetically determined disease. According to information from the Association of Families with Fabry Disease, it currently has 65 patients, but the number of patients may be many times greater. As emphasized by prof. Jolanta Sykut-Cegielska, national consultant in the field of Metabolic Pediatrics from the Institute of Mother and Child, problems related to the diagnosis of this disease result from its non-specific symptoms.
– The first, in addition, uncharacteristic ailments related to the occurrence of Fabry disease do not appear in children until the age of 6-7 years, so it is not possible to detect the disease immediately after birth, e.g. by screening newborns. Most often, ailments related to Fabry disease are confused with typical symptoms of rheumatic or cardiological diseases – says prof. Sykut-Cegielska.
From the report, created by the Association of Families with Fabry Disease, “Invisible disease, invisible patients” shows that nonspecific symptoms of the disease affect the time of diagnosis, for this reason more than 70 percent. patients had to wait more than 5 years for the correct diagnosis.
Prof. Jolanta Sykut-Cegielska explains that Fabry disease is caused by a change in the gene responsible for the production of alpha-galactosidase, i.e. one of the many lysosomal enzymes found in the human body -. Its deficiency causes the accumulation of undegraded fatty substances in the tissues of the nervous and circulatory systems.
– Substances which are not metabolised build up in the blood vessels, in the vessels of the heart, in the brain and in the kidneys. Progressive kidney failure, which over time turns into end-stage renal failure, is the most common cause of death in untreated patients. In addition, these patients are also exposed to multiple strokes and heart attacks – says Prof. Jolanta Sykut-Cegielska.
Dr hab. Stanisława Bazan-Socha, a specialist in internal medicine from the University Hospital in Krakow, emphasizes that, apart from disturbances in body thermoregulation, one of the most characteristic symptoms of Fabry’s disease is intense pain.
– Patients often say that they do not remember the day when they did not feel any pain. Pain accompanies them from an early age. In addition, the body of a person with Fabry disease practically does not sweat, and thus does not have a cooling function, which further aggravates the pain, especially during hot days or during increased physical exertion – says Dr. Stanisława Bazan-Socha.
Prof. Jolanta Sykut-Cegielska points out that the pain experienced by patients may last from a few minutes to several days and is not only intense, but also resistant to standard painkillers.
The report “Invisible Disease, Invisible Patients” shows that it is the intense, radiating pain that hinders the daily functioning of as many as 75% of patients. respondents.
Other symptoms of the disease include a reddish-purple skin rash and gastrointestinal disorders associated with organ ischemia. They concern 66 percent. studied patients.
ALARMING DATA
There are almost 8 Rare diseases, of which drugs have been invented for just 200 of them, including Fabry disease. Treatment with Enzyme Replacement Therapy consists of replenishing the missing enzyme with a drip. In this way, the therapy inhibits the progression of the disease. Poland, despite many years of efforts of patients and doctors, is the only country in the European Union where patients do not have access to reimbursed treatment.
– A patient diagnosed with Fabry disease, the diagnosis of which has probably been waiting for several years, will be told in a doctor’s office that he will not receive treatment because it is not available in Poland. Such a situation is stressful from the perspective of the doctor himself, let alone a patient with a serious, life-threatening disease – says Dr. Stanisława Bazan-Socha.
According to the report “Invisible Disease, Invisible Patients”, obtaining reimbursement is one of the most pressing needs of patients today. As much as 37 percent. the respondents do not have and do not plan to have children, for fear of passing them on to a hereditary disease, the treatment of which is unavailable in Poland. 49 percent respondents as a result of progressive disease had to give up plans that are important to them, and 58 percent. admits that the disease negatively affected their financial situation.
The “Invisible Disease, Invisible Patients” report is available here.