Rare Disease Focus: Hematologic Disorders +++ +++ +++

FEATURED ARTICLES CTCL Medical Treatment and Stem-Cell Transplantation in Patients With Cutaneous T-Cell Lymphoma https://checkrare.com/medical-treatment-and-stem-cell-transplantation-in-patients-with-cutaneous-t-cell-lymphoma/ Lauren Shea, MD, Assistant Professor of Hematology and Oncology, University of Alabama, Birmingham, discusses important aspects of medical treatment and stem-cell transplantation in patients with cutaneous T-cell lymphoma (CTCL). Prospective Cutaneous Lymphoma International Prognostic Index Study https://checkrare.com/prospective-cutaneous-lymphoma-international-prognostic-index-study/ Julia Scarisbrick, MD, MBhons, ChB, FRCP, Professor of Dermatology, Department of Immunology and Immunotherapy, University of Birmingham, Birmingham, United Kingdom, one of the leaders of the PROCLIPI (Prospective Cutaneous Lymphoma International Prognostic Index) study, a registry of patients with cutaneous T-cell lymphoma (CTCL), discusses the study’s objectives, as well as challenges in the diagnosis of CTCL. Systemic Mastocytosis An Overview of Systemic Mastocytosis https://checkrare.com/an-overview-of-systemic-mastocytosis/ Dareen D. Siri, MD, FAAAAI, FACAAI, board-certified allergist and immunologist practicing at Midwest Allergy Sinus Asthma, discusses a unique, rare disorder called systemic mastocytosis. Beyond the Rash: Recognizing and Managing Systemic Mastocytosis in Clinical Practice https://checkrare.com/beyond-the-rash-recognizing-and-managing-systemic-mastocytosis-in-clinical-practice/ Patrick C. Foy, MD, a Clinical Hematologist practicing at Froedtert Hospital, Milwaukee, and Associate Professor, Medical College of Wisconsin, discusses the diagnostic challenges of systemic mastocytosis and optimizing patient care. Results of the Phase 2 PIONEER Study in Patients With Systemic Mastocytosis https://checkrare.com/results-of-the-phase-2-pioneer-study-in-patients-with-systemic-mastocytosis/ Cem Akin, MD, PhD, Professor, Allergy and Immunology at the University of Michigan, discusses systemic mastocytosis, and the results of the phase 2 PIONEER study, which tested the tyrosine-kinase inhibitor avapritinib (Ayvakit) against placebo in symptomatic patients. PLGD-1 Plasminogen Deficiency: Fibrin Accumulation and Its Effects on Patients https://checkrare.com/plasminogen-deficiency-fibrin-accumulation-and-its-effects-on-patients-2/ Plasminogen is a precursor protein that is converted into plasmin. Plasmin is crucial to break down fibrin, the main protein component of blood clots. When the body does not produce sufficient plasminogen or does not produce adequate active plasminogen, fibrin can accumulate in mucous membranous areas throughout the body. Type 1 Plasminogen Deficiency Overview https://checkrare.com/type-1-plasminogen-deficiency-overview/ Amy Shapiro, MD, a pediatric hematologist and the Medical Director and CEO of the Indiana Hemophilia and Thrombosis Center in Indianapolis, provides CheckRare an overview on type 1 plasminogen deficiency (PLGD-1). Diagnosis and Management of Plasminogen Deficiency https://checkrare.com/diagnosis-and-management-of-plasminogen-deficiency/ Amol Sura, MD, discusses the diagnosis and management of plasminogen deficiency, a rare condition that manifests in mucous membranes. Key Features of PLGD-1 https://checkrare.com/diagnosis-and-management-of-plasminogen-deficiency-2/ Angela Zhu, MD, Ophthalmologist and Clinical Assistant Professor, Pediatric & Adult Cornea/Cataract/External Diseases, at Bascom Palmer Eye Institute in Miami, describes some of the key features of plasminogen deficiency and why ophthalmologists are often the healthcare providers who begin the process toward diagnosis.