Timely diagnosis and proper treatment, key in tackling rare diseases.

-the paroxysmal nocturnal hemoglobinuria (PNH) is an ultra-rara disease that affects about 250 people in Spain and is one of the few rare diseases with a treatment which shows the same rates of survival than the general population

Spain, February 2012.- timely diagnosis and appropriate treatment are key to tackling minority or rare diseases. This is at least the conclusion reached on the third day of intended for patients of paroxysmal hemoglobinuria night (PNH), held in the Dr. Negrín Hospital in las Palmas.

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

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

This meeting have also involved two Canarian patients, Laureano and Catherine, who have reported two personal experiences with the disease and have seen the change experienced in quality of life with the treatment of eculizumab, drug approved by the FDA (Food and Drug Administration) and EMA (European Medicines Agency) in 2007.

This day has been the exhibitions of the Silvia Church doctors and Angelina Lemes, and Dr. José Miguel Bosch, Hematologists of the Hospital Dr. Negrin of Gran Canaria, the doctor Fernando Fernandez, hematologist of the Insular Hospital of las Palmas de Gran Canaria. The conclusions of this meeting have been in charge of Jordi Cruz, President of the Association of PNH.

Paroxysmal nocturnal Hemoglobinuria

The paroxysmal nocturnal hemoglobinuria (PNH) is an 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 an ultra-rara disease that progressively deteriorating patients and a real life threat.

Often the PNH occurs without be recognised initially, usually between 30 and 40 years, and early diagnosis is essential. 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 means of periodic blood transfusions, therapy immunosuppressive not specific and, rarely, bone marrow transplant, a procedure which entails a significant risk of mortality.