The involvement of all health workers is essential in tackling rare diseases

Zaragoza, March 2012.- from primary care to research are essential in tackling rare diseases, as it has been completed at the meeting rare diseases: from the primary care research ”has been held in connection with the world day of these minority pathologies.

In the discussion forums have been dealt the approach of different rare diseases such as rare neoplasms, neuromuscular diseases, diseases of Lysosomal Storage and intellectual disability.

Among those attending the event, which has brought together specialists, primary care physicians, medical students and patients, there were also representatives of associations of patients, such as the President of the Association of patients of PNH, Jordi cross.

The paroxysmal nocturnal hemoglobinuria (PNH) is a ultra-rara disease that affects about 250 people in Spain and characterized by the destruction of red blood cells (hemolysis) and can cause a thrombus, main causes of death among these patients.

It is one of the few rare diseases with treatment showing the same rates of survival than the general population. Why, according to experts, it is so important to properly diagnose this type of disease so rare and subsequently administer the treatment.

Paroxysmal nocturnal Hemoglobinuria

The paroxysmal nocturnal hemoglobinuria (PNH) is a ultra-rara disease that affects about 250 patients in Spain. It’s a genetic disorder in which normal natural proteins do not adhere properly to the red blood cells and therefore they are unprotected from the immune system and are destroying premature and chronic form. It is a ultra-rara disease that progressively impairs patients and a real life threat.

Often the PNH occurs without be recognised initially, usually between 30 and 40 years, and an early diagnosis is crucial. The value of the median survival of patients with PNH ranges between 10 and 15 years from the time of diagnosis. PNH occurs without warning, and affects both sexes…

Until the time of the authorization of Eculizumab, there is no specific therapy for the treatment of PNH. The treatment of this disease was limited to the management of symptoms by regular blood transfusions, therapy immunosuppressive non-specific and, rarely, bone marrow transplant, a procedure that carries a significant risk of mortality.