Scientists have more clearly discerned the phenotypes associated with various mutations in patients with hereditary transthyretin amyloidosis (hATTR), according to a study published in Neurology. Researchers have described more than 120 pathogenic variants of hATTR. The 2 most common genetic variants in endemic regions are Val30Met and Thr60Ala. In the United States, the most common genetic…
Which of the statements below about the types of myelofibrosis (MF) are correct? Select one of the options for each question, then submit your answers to see your score and the average score for everyone who has taken the quiz. Read more about MF types.
Pituitary apoplexy should be considered in certain circumstances in patients presenting with immune thrombocytopenia (ITP), according to a recent study published in the Journal of Neurological Surgery Reports. The study presents a unique case of ITP presenting with pituitary apoplexy. The patient, a 61-year-old man, presented to the emergency department with symptoms of diplopia and headache…
In patients with hereditary transthyretin amyloidosis (hATTR) with polyneuropathy, the small interfering RNA agent vutrisiran appears to have greater efficacy on multiple measures of impairment and health-related quality of life (HRQOL) than the transthyretin tetramer stabilizer tafamidis, according to findings derived from phase 3, randomized controlled trials. Results of the current study were published in…
A recent study published in the British Journal of Haematology has found that combining thrombopoietin receptor agonists (TPO-RAs) with immunosuppressive drugs can be an effective treatment option for patients with multirefractory immune thrombocytopenia (ITP) who have not responded to other treatments such as rituximab, splenectomy, and TPO-RAs alone. The combination therapy resulted in a high response rate, with 77%…
The severity of immune thrombocytopenia (ITP) is inversely associated with serum levels of C3 and C4 in both subtypes, according to a new literature review published in the journal Immunological Medicine. Moreover, the study showed that a variety of complement abnormalities in complement regulatory proteins, initial proteins, and end products were reported in primary ITP,…
Analyzing epidemiological characteristics of patients with immune thrombocytopenia (ITP) could help identify recent patterns and trends of this disease, according to a study recently published in the British Journal of Haematology. “Our results show both the prevalence and incidence of [primary ITP (pITP)] are increasing in the adult population, in particular at older ages,” the authors…
The US Food and Drug Administration (FDA) has granted Fast Track Designation to INBRX-101, an engineered recombinant human alpha-1 antitrypsin (AAT)-Fc fusion protein being developed by Inhibrx for the treatment of patients with emphysema due to alpha-1 antitrypsin deficiency (AATD). INBRX-101 therapy aims to safely achieve and maintain the levels of the AAT protein found in…
In patients with sickle cell disease (SCD) with complex defects, the use of reconstruction with free tissue transfer can prove successful with medical and surgical optimization, according to findings from a case report and systematic literature review published in Archives of Plastic Surgery. SCD is an inherited blood disorder and is associated with the presence…
Adults with indolent systemic mastocytosis (SM) now have a medicine to treat their disease after the groundbreaking approval of Ayvakit® (avapritinib) by the US Food and Drug Administration (FDA). “Today’s approval of Ayvakit reflects more than a decade of collaboration and leadership in the field of SM, during which our team at Blueprint Medicines has…
