Rare Disease Advisor

Rare Disease Advisor Takes Silver in the National Azbee Award! We are excited to announce that RDA won the National Silver AZBEE award for conference coverage! This award comes after the RDA team won the Regional Gold AZBEE last month for conference coverage, qualifying them for the finals. The RDA team provided extensive on-the-ground coverage of the 2023 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, one of the most prominent medical conferences for the rare disease community. Rare Disease Advisor serves healthcare providers, particularly those who may detect, diagnose, and/or treat rare diseases. We publish news, insights, columns, resources, and interactive features to help clinicians decrease the time to diagnosis and treatment of patients with rare diseases. Many of these patients experience misdiagnosis and have the treatment they need delayed for years, negatively affecting their health outcomes. Learn more about RDA’s Winning Submission here: https://lnkd.in/e4qn3VzJ ASBPE #MDAConference #RDAatMDA Haymarket Medical Network MM+M Haymarket Media US

The US Food and Drug Administration FDA has cleared Acepodia’s Investigational New Drug application for ACE1831 to treat immunoglobulin G4-related disease. Read more: https://lnkd.in/ebBt54K8 #RareDisease

Researchers reported the unique case of a patient with #myelofibrosis and extramedullary hematopoiesis that presented as colonic ulcers. The patient was a 73-year-old female with MF who presented to the hospital with recurrent fevers and abdominal pain lasting 4 months. A previous colonoscopy had shown she had ulcers in the rectosigmoid, descending, transverse, and ascending colon. She had biopsies taken, which showed ulceration and ischemia. Read more here: https://bit.ly/3V3bRQ6

A K-negative patient was able to avoid complications associated with hemolytic disease of the fetus and newborn with administration of immune-modulating therapies, according to a #CaseReport published recently in the journal Cureus Journal of Medical Science. Read more: https://bit.ly/3V43vYv #MaternalFetalMedicine

A team of researchers reported the unique case of a patient with myelofibrosis, which developed secondary to acute promyelocytic leukemia with myeloid sarcoma. The case was that of a 73-year-old male who presented to the hospital with pain in his shoulders starting on the left as well as pain in both hips. He also had a mass in his right sternoclavicular joint, which was progressively increasing in size. Following a medical examination, he was diagnosed with acute promyelocytic leukemia with myeloid sarcoma for which he received induction, consolidation, and maintenance therapies. This led to complete remission. Read more: https://bit.ly/4hQRejY

A recent review in the International Journal of Molecular Sciences MDPI provides updated insights on thrombosis, its risk factors, characteristics, and management in paroxysmal nocturnal hemoglobinuria (PNH). The review reports that up to 40% of patients with PNH are affected by thrombosis, particularly venous thrombosis. PNH leads to a prothrombotic state, and thrombolytic events can be the first symptom of the disease. In these patients, thrombolytic events are driven by a vicious cycle of complement activation, hemolysis, endothelial dysfunction, and platelet and neutrophil activation. Read more: https://bit.ly/3YWLQ6s

Targeting the inflammasome pathway with anakinra and colchicine effectively reduced placental inflammation, mitigated lesions from chronic histiocytic intervillositis, and improved pregnancy outcomes in patients with recurrent CHI. Read more: https://bit.ly/48YwG5a #MaternalFetalMedicine

A recent case highlights the underrecognized role of cold agglutinin disease in triggering neurological deficits in patients with severe arterial stenosis. The patient, an 84-year-old female, presented with acute left upper extremity weakness following exposure to sub-zero temperatures. Furthermore, she reported generalized fatigue and asthenia. Read more: https://bit.ly/491iM2b #RareDisease #CaseReport

In patients with hemophilia and hypertrophic synovium (HS), an intensified strategy for factor VIII (FVIII) prophylaxis targeting trough levels of 8% to 12% yielded markedly superior outcomes compared with the standard 3% to 5% FVIII protocol, according to results from a randomized trial. ? In a 24-month randomized, open-label study, intensive therapy achieved a 35.9% reduction or resolution of HS vs 8.4% with standard treatment. Read more: https://bit.ly/4fTuPRm

An increase in the ratio of left atrial volume index to left ventricular ejection fraction is linked to a higher risk of death, heart transplant, or the need for a left ventricular assist device in patients with transthyretin-mediated amyloid cardiomyopathy. The results are based on a retrospective cohort study in 69 patients, mean age 77.5 with ATTR-CM and heart failure conducted between November 1, 2008, and March 31, 2024. Read more: https://bit.ly/496B7ek #Cardiology