Pitfalls of delaying the diagnosis of hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT; Osler-Weber-Rendu disease) is an autosomal dominant vascular disease characterized by nosebleeds, mucocutaneous telangiectases, visceral arteriovenous malformations (AVM) and a first-degree relative with HHT. Diagnosis is definite if three or four criteria are present. This case report describes a 19-year-old male with incidentally detected polycythaemia and an associated soft-tissue opacity over the left lower lobe on his frontal chest radiogram.

[Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)].

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a worldwide prevalence of 1 : 5000 - 1 : 10 000. Diagnosis is based on clinical Curacao criteria. Approximately 85% of HHT cases have heterozygous family-specific mutations in the or genes.

The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a wordwide prevalence of 1:5000-1:10000. We introduce our algorithm for the stratified population screening of HHT. Probands are selected from the consecutive hospital database review for HHT (I7800) and recurrent epistaxis (R0400) and the review of patient records referred by family practicioners.

Effectiveness of the Combination of Rituximab and Standard Chemotherapeutic Regimens in Previously Untreated Patients with Chronic Lymphocytic Leukaemia in Real-Life: Results from a Noninterventional Study (CILI Study).

Chronic lymphocytic leukemia (CLL) is one of the most common haematological malignancies exhibiting remarkable heterogeneity in clinical course. Rituximab added to standard chemotherapy has been proven to increase response rate and eventually survival among previously untreated CLL patients. CILI was an open-label, non-randomized, single arm, multicentric, observational study aimed to collect real-life effectiveness data for rituximab used according to the current label in combination with standard chemotherapy in previously untreated CLL patients.