Marta Morado

Terminal complement inhibitors can control intravascular hemolysis in Paroxysmal Nocturnal Hemoglobinuria (PNH) patients, although the hematological response achieved may not persist, and it may become unsatisfactory. The proximal (C3) complement inhibitor Pegcetacoplan (PEG) improves this situation in clinical trials, yet real-world data on its efficacy and safety are scarce. This non-interventional, retrospective, multicenter study presents clinical and hematological data from the first PNH patients in Spain treated with PEG (n = 32, median 13 months, range 4-61). PEG rapidly increases the patient's hemoglobin (median increase of 2.65 g/dL in 4 weeks, > 2 g/dL increase in 56.3% of patients), reaching > 8, 10 and 12 g/dL in 93.7%, 87.5% and 46.9% of patients, respectively. Packed red blood cell transfusion requirements dropped from 62.5% to 15.6% of patients treated with PEG, and there was a fall in breakthrough hemolysis from 34.4% to 9.4% after 6 months of treatment. No thrombosis and only mild adverse events (n = 11 patients) were described with PEG therapy. Finally, physicians perceived important enhancements in patients' health-related quality of life. This real-world clinical data confirms that PEG produces significant and rapid improvements in hemoglobin and hemolytic parameters, with a favorable safety profile. The data extends that of earlier clinical trials and small real-world studies by offering a longitudinal (as opposed to cross-sectional) assessment of the patient responses across a large number of centers, following a variety of clinical practices.. PEG treatment of patients with PNH produces significant and rapid improvements in hemoglobin and hemolytic parameters, with a favorable safety profile.

Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche has been described, although it has not been related to fertility problems. Menorrhagia is relatively frequent, being related to the presence of thrombocytopenia, thrombocytopathies or coagulation disorders. On the other hand, pregnancy planning is an increasingly frequent concern. All patients should undergo genetic counseling, and it is important to monitor the appearance or worsening of organomegaly, bone and hematologic abnormalities to establish clinical and therapeutic recommendations. Management during the puerperium will depend on the evolution of gestation, and, during the lactation period, the potential appearance of bone complications should be assessed. An early onset of menopause, compared to the general population, has also been described, which may accelerate the development of osteopenia. Finally, although the usual screening protocols for neoplasms are currently being performed, it is recommended to watch for early signs of liver or renal neoplasms when examining the results of imaging tests performed during evaluations for this disease.