Finding and treating gaucher disease type 1 - The role of the haematologist

Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews. The majority of patients with GD present with unexplained splenomegaly and/or thrombocytopenia, and the disorder often affects children; consequently, haematologists and paediatricians are ideally placed to diagnose this condition. Prompt management of GD type 1 using enzyme-replacement therapy or substrate reduction therapy can reduce the risk of developing long-term GD complications and reverse many of the initial signs/symptoms, thereby improving both quality and duration of life. Treatment is most effective when initiated early; consequently, a prompt diagnosis is essential. Despite this, the average time to diagnosis following the onset of clinical symptoms is 4 years. Reasons for the delay include the heterogeneous nature of the disease, together with a lack of awareness of rare haematological disorders and the benefits of early treatment. Indeed, studies show that only 20% of haematologists consider GD type 1 in their differential diagnosis for patients presenting with splenomegaly and/or thrombocytopenia. To help raise awareness of GD, reduce the diagnostic delay and prevent unnecessary tissue biopsies, simple diagnostic algorithms and screening tools have been developed and validated, both in adults and in children

Linfopenia B: Reporte de Casos

1 p.La linfopenia B (<2%) es un hallazgo poco frecuente. Cuando se acompaña de niveles séricos de inmunoglobulinas (Igs) menores a 2DS para la edad permite realizar un diagnóstico (Dx) posible de Agammaglobulinemia (AG). Es una Inmunodeficiencia Primaria predominantemente de anticuerpos de herencia ligada al X (AG-X) en la mayoría de los casos.Fil: Raimondo, Natalia. Hospital de Niños Santísima Trinidad; ArgentinaFil: Selina, Manrique. Hospital de Niños Santísima Trinidad; ArgentinaFil: Cassinerio, Adriana. Hospital de Niños Santísima Trinidad; ArgentinaFil: Mosca, Liliana. Hospital de Niños Santísima Trinidad; ArgentinaFil: Orellano, Julio. Hospital de Niños Santísima Trinidad; ArgentinaPediatrí

Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: a risk assessment study from a multicentre nation-wide cohort

Transfusion-dependent patients typically develop iron-induced cardiomyopathy, liver disease, and endocrine complications. We aimed to estimate the incidence of endocrine disorders in transfusion-dependent thalassemia (TDT) patients during long-term iron-chelation therapy with deferasirox (DFX).We developed a multicentre follow-up study of 426 TDT patients treated with once-daily DFX for a median duration of 8 years, up to 18.5 years. At baseline, 118, 121, and 187 patients had 0, 1, or ≥2 endocrine diseases respectively. 104 additional endocrine diseases were developed during the follow-up. The overall risk of developing a new endocrine complication within 5 years was 9.7% (95%CI=6.3-13.1). Multiple Cox regression analysis identified 3 key predictors: age showed a positive log-linear effect (adjusted HR for 50% increase=1.2, 95%CI=1.1-1.3, P=0.005), the serum concentration of thyrotropin (TSH) showed a positive linear effect (adjusted HR for 1 mIU/L increase=1.3, 95%CI=1.1-1.4, P