Paroxysmal nocturnal hemoglobinuria: a single Spanish center's experience over the last 40 yr

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disease. To date, many reviews and series have been described. We report the experience of our center by presenting a review of 56 PNH patient cases with an average age at diagnosis of 38 yr and follow-ups beginning at approximately 40 yr; the median survival rate was 11 yr. The average clonal size upon diagnosis was 48%, presenting a variable evolution. Thrombotic episodes and cancer were five each, and the main causes of death among our patients were equal at 8.9%. Radiological study by magnetic resonance imaging is presented as a fundamental technique for estimating the deposit of iron levels in the liver and kidney, as well as in some decisive cases at the start of eculizumab therapy. Sixteen patients have been treated with eculizumab so far in our series, and being a safe drug, it provides improvement in the patients' quality of life, and the disappearance of clinical symptoms, and avoids the emergence of new thrombosis.

Keywords: eculizumab; liver transplantation; paroxysmal nocturnal hemoglobinuria; secondary cancer; thrombosis.

Figure 1

Lineal relationship between paroxysmal nocturnal hemoglobinuria (PNH) clone and lactate dehydrogenase (LDH) levels. LDH levels were correlated with the PNH clone in granulocytes in the same day in 199 samples of patients with PNH. Patients on eculizumab were excluded. LDH levels over normal could be calculated in our series in base to PNH clone in granulocytes with a mathematic equation as follows: LDH = 0.485 + 0.067 × PNH clone. r = 0.651 P < 0.001.

Figure 2

Kaplan–Meier Survival Curves: actuarial survival from the time of diagnosis of 53 patients with paroxysmal nocturnal hemoglobinuria. The monitoring of three patients from 1992, 2001, and 2005 with their respective follow-ups of 6, 3, and 14 yr has been lost and has not be included in the survival analysis. (A) The whole series. (B) Patients with thrombotic episodes (dotted line) and without it. P not significative.