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- Cross-Sectional Epidemiological Study to Understand the Approach to Treatment in the Routine Care of Patients with Hemophilia B in Spain and PortugalPublication . Álvarez-Román, MT; Carvalho, M; Benítez-Hidalgo, O; Catarino, C; García-Frade, LJ; Rodríguez-López, M; Antunes, M; Fernández-Mosteirín, N; Kjöllerström, P; Morais, S; Galmes, B; López-Fernández, MF; Riera-Sans, L; Rodrigues, JF; Jiménez-Yuste, V; Salvado, RIntroduction: Treatment options for patients with hemophilia B (PWHB) have improved in the last decade, but epidemiological studies are required to optimize clinical management and define unmet needs. Objective: The objective of the study is to investigate current disease management and quality of life (QoL) in PWHB in Spain and Portugal. Methods: Epidemiological, cross-sectional, multicenter study with moderately severe and severe PWHB. Sociodemographic, epidemiological, clinical, treatment, and QoL data were collected retrospectively over a 24-month period. Results: Of the 75 patients included in the study, 78.7% received prophylactic treatment and 21.3% on demand; 65.3% were treated with SHL-FIX and 10.7% with rIX-FP. Bleeding occurred in 81.3%, mainly in the form of spontaneous bleeding. Prophylaxis resulted in a lower annualized bleeding rate, better joint health, and better QoL, compared to on-demand treatments. Patients treated with rIX-FP throughout the study had better disease control and QoL than those treated with SHL-FIX. Conclusion: With the largest sample to date of PWHB from Spain and Portugal, our understanding of the management and impact of hemophilia B is broadened and, in accordance with previous evidence, it shows the benefits of prophylaxis and the advantages that the FIX extended half life products life FIX can offer.
- Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein–Barr Virus InfectionPublication . Sousa Nunes, B; Gouveia, C; Kjollerstrom, P; Farela Neves, JAutoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent with cold AIHA plus concomitant HLH. The patient was treated with corticosteroids and acyclovir, with an uneventful recovery. Although rare, cold agglutinin syndrome and HLH can complicate infectious mononucleosis and should be considered in a patient with clinical deterioration. Corticosteroids are the mainstay treatment of HLH and may be beneficial in infection-associated cold agglutinin syndrome.
- Eltrombopag Use in Children with Persistent and Chronic Primary Immune Thrombocytopenia in a Portuguese Pediatric CenterPublication . Lopes, C; Castro, A; Maia, R; Batalha, S; Kjöllerström, P
- Invasive Bacterial Infections in Children With Sickle Cell Disease: 2014–2019Publication . Gaschignard, J; Koehl, B; Rees, DC; Rincón-López, E; Vanderfaeillie, A; Pascault, A; Allali, S; Cela, E; Odièvre, MH; Hau, I; Oliveira, M; Guillaumat, C; Brousse, V; de Montalembert, M; Navarro Gómez, ML; Beldjoudi, N; Bardon-Cancho, EJ; Epalza, C; Benkerrou, M; Gaschignard, J; Koehl, B; Pascault, A; Brousse, V; Allali, S; de Montalembert, M; Odièvre, MH; Hau, I; Guillaumat, C; Blais, S; Runel-Belliard, C; Pellegrino, B; Malric, A; Guitton, C; Gouraud, F; Petras, M; Bensaid, P; Basmaci, R; Eyssette-Guereau, S; Pham, LL; Bardon-Cancho, EJ; Cela, E; Gómez, ML; Rincon-Lopez, E; Ruiz-Llobet, A; Adan, R; Puyo, PV; Recasens, V; Epalza, C; Perez-Alonso, V; Torrent, M; Gomez, AB; Vázquez, A; Rodríguez, RP; Alfaridi, H; Almaghrabi, R; Hoyoux, M; Vanderfaeillie, A; Ferreira, T; Rees, DBackground: Children with sickle cell disease (SCD) are at a high risk of invasive bacterial infections (IBI). Universal penicillin prophylaxis and vaccination, especially against Streptococcus pneumoniae, have deeply changed its epidemiology. Analysis of IBI in children with SCD in a post-13-valent pneumococcal vaccine era is limited. Methods: Twenty-eight pediatric hospitals from 5 European countries retrospectively collected IBI episodes in SCD children aged 1 month to 18 years between 2014 and 2019. IBI was defined as a positive bacterial culture or polymerase chain reaction from a normally sterile fluid: blood, cerebrospinal, joint, or pleural fluid and deep surgical specimen. Results: We recorded 169 IBI episodes. Salmonella spp. was the main isolated bacteria (n = 44, 26%), followed by Streptococcus pneumonia (Sp; n = 31, 18%) and Staphylococcus aureus (n = 20, 12%). Salmonella prevailed in osteoarticular infections and in primary bacteremia (45% and 23% of episodes, respectively) and Sp in meningitis and acute chest syndrome (88% and 50%, respectively). All Sp IBI occurred in children ≤10 years old, including 35% in children 5 to 10 years old. Twenty-seven (17%) children had complications of infection and 3 died: 2 because of Sp, and 1 because of Salmonella. The main risk factors for a severe IBI were a previous IBI and pneumococcal infection (17 Sp/51 cases). Conclusions: In a post-13-valent pneumococcal vaccine era, Salmonella was the leading cause of bacteremia in IBI in children with SCD in Europe. Sp came second, was isolated in children ≤10 years old, and was more likely to cause severe and fatal cases.
- Neuroimaging Findings in Paediatric Patients with Sickle Cell DiseasePublication . Abreu, VS; Xavier, S; Santos, M; Lopes da Silva, R; Kjöllerström, P; Conceição, CSickle cell disease (SCD) is an autosomal recessive haemoglobinopathy, which manifests as multisystem ischaemia and infarction, as well as haemolytic anaemia. The morphological changes of red blood cells (RBCs) that promote ischaemia/infarction as the main multi-systemic manifestation, with associated vasculopathy, may also lead to haemorrhage and fat embolisation. Bone infarctions, whether of the skull or spine, are relatively common with subsequent increased infectious susceptibility. We present a broad spectrum of brain and spine imaging findings of SCD from a level III paediatric hospital in Lisbon, between 2010 and 2022. Our aim is to highlight brain and spine imaging findings from a serial review of multiple patients with SCD and respective neuroimaging characterisation.
- Neonatal Acute Compartment Syndrome as First Manifestation of Hematologic Disease: Case ReportPublication . Sacras, ML; Ladeira, C; Carmo, S; Kjöllerström, PHemophilia A, characterized by deficiency of functional plasma clotting factor VIII, is an X-linked disorder. Signs and symptoms depend on factor VIII levels. Severe hemophilia A (factor levels less than 1%) is usually diagnosed in the first two years of life. Pediatric compartment syndrome is most associated with trauma, but infectious and vascular causes must also be considered. We report a case of a newborn who presented with a severe hand hematoma after venous puncture, complicated by compartment syndrome. An isolated prolonged partial thromboplastin time was found, and hemophilia was suspected. Factor VIII levels less than 1% were consistent with severe hemophilia A. The patient received recombinant factor VIII perioperatively. Fasciotomy was performed and the patient was kept on antibiotics until closure.
- Lemierre Syndrome in a Teenager Presenting as Pulmonary Septic EmbolismPublication . Domingues, R; Neves, JF; Candeias, F; Kjöllerström, P; Brito, MJLemierre syndrome is easily missed and may be more common than generally believed. Usually a complication of a deep neck abscess, it can present suddenly with shortness of breath and hypoxemia. Accurate diagnosis and orientation are mandatory for the treatment of an otherwise potentially life-threatening disease. We describe a case of an adolescent with Lemierre syndrome and septic pulmonary embolism.
- Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 CasesPublication . Costa e Castro, A; Maia, R; Batalha, S; Freixo, JP; Martins, C; Neves, C; Cordeiro, AI; Neves, JFDNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure, dysmorphic features, and T and B lymphopenia. A compound heterozygous variant L19W/K635fs in the LIG4 gene was identified. Patient 2 presented at the age of 16 with recurrent infections. He had agammaglobulinemia and absent B cells. A homozygous R278H in the LIG4 gene was identified. Patient 3 was referred for vitiligo and B-cell lymphopenia (low class-switched B cells) and hypogammaglobulinemia. Homozygous R278H in LIG4 was also identified. In the last few years, the spectrum of clinical manifestations caused by ligase IV deficiency has widened, making it very difficult to establish an accurate clinical diagnosis. The use of NGS allows a proper diagnosis and provides a better prognosis and adequate family counseling.
- Cranial Masses in Sickle Cell DiseasePublication . Gonçalves, JS; Tribovane, D; Pires, M; Lopes, RS; de Oliveira, MR; Conceição, C
- Haemophilia A: Health and Economic Burden of a Rare Disease in PortugalPublication . Café, A; Carvalho, M; Crato, M; Faria, M; Kjollerstrom, P; Oliveira, C; Pinto, PR; Salvado, R; Dos Santos, AA; Silva, CHaemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost and health burden of haemophilia A in Portugal.
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