No abstract

Thrombophilia, which severely impacts on morbidity and mortality of polycythaemia vera and essential thrombocythaemia, is variably characterized by microcirculatory disturbances, arterial and venous thromboses that often precede disease recognition. Thus, the search for Janus Kinase 2 mutation, the molecular marker of myeloproliferative neoplasms, is becoming increasingly common particularly in patients with vein thromboses at atypical sites. Although the pathogenesis of thrombophilia is still elusive, platelet and leukocyte abnormalities seem particularly critical and likely account for the antithrombotic efficacy of aspirin and hydroxyurea.

Summary Polycythemia vera (PV) is a chronic myeloproliferative disorder whose major morbidity and mortality are thrombohaemorragic events and progression to acute leukaemia or myelofibrosis. Whether the haematocrit and platelet count predict such complications remains unclear. The European Collaboration on Low‐dose Aspirin in Polycythemia Vera prospective study included 1638 PV patients. A total of 164 deaths (10%), 145 (8·85%) major thrombosis and 226 (13·8%) total thrombosis were encountered during 4393 person‐years follow‐up (median 2·8 years). In time‐dependent multivariable analysis, a haematocrit in the evaluable range of 40–55% was neither associated with the occurrence of thrombotic events, mortality nor with haematological progression in the studied population. The haematocrit of patients in the highest and lowest deciles at baseline was maintained within a narrow interval of haematocrit values ranging from 40% to 47% throughout follow‐up. High platelet count was associated with a lower progression rate to acute leukaemia/myelofibrosis, whereas it had no significant relationship with thrombotic events or mortality. Our findings do not suggest that the range of haematocrit (<55%) and platelet counts (<600 × 109/l) we encountered in our population had an impact on the outcome of PV patients treated by current therapeutic strategies.

The levels of the health-related quality of life (HR-QoL) were analyzed in hereditary hemorrhagic telangiectasia (HHT) patients. The Short Form-36 Health Survey (SF-36) was administered to 50 HHT patients and scores were compared to a cohort of 2301 normal subjects. Clinical variables were patient age, illness duration, number of epistaxis episodes in the previous year and hemoglobin levels. Physical functioning, physical role limitations, bodily pain, social functioning, emotional role limitations and the physical component scores were lower among females. In multivariable analyses increasing age was related to lower physical functioning (p < 0.04), physical role limitations (p < 0.008), bodily pain (p < 0.05) and emotional role limitations (p < 0.01), while higher hemoglobin levels improved physical functioning (p < 0.03). The number of epistaxis episodes was negatively associated with physical role limitations (p < 0.009), vitality (p < 0.002), social functioning (p < 0.001), physical component summary (p < 0.001) and bodily pain (p < 0.01). Illness duration was negatively related to the mental component summary (p < 0.004). HHT patients had a lower HR-QoL with respect to normal controls in all domains except for bodily pain. Females had lower scores for several domains. Epistaxis was the most important clinical variable.

There is limited evidence available on the long-term impact of SARS-CoV-2 infection in children. In this article, the authors analyze the recent evidence on pediatric long covid and lessons learnt from a pediatric post-covid unit in Rome, Italy. To gain a better understanding of the concerns raised by parents and physicians in relation to the potential long-term consequences of this novel infection, it is important to recognize that long-term effect of a post-infectious disease is not a new phenomenon.