IgG4-Related Disease Signs and Symptoms - Rare Disease Advisor
Immunoglobulin G4-related disease (IgG4-RD) is a chronic fibroinflammatory disorder that was identified in the 21st century. It is recognized as a systemic, immune-mediated condition, and one key feature of this disease is the presence of abundant IgG4-positive plasma cells and fibroblasts.
ANCA-Associated Vasculitis Life Expectancy - Rare Disease Advisor
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a heterogeneous group of rare autoimmune diseases in which ANCA target and activate neutrophils. These, in turn, attack the cells lining small blood vessels, causing inflammation and damage. 1 Depending on which organ or system is affected, the symptoms of AAV can vary greatly.
Rare Disease News, Perspectives & Resources - Rare Disease Advisor
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ANCA-Associated Vasculitis Overview - Rare Disease Advisor
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) comprises a group of rare autoimmune conditions characterized by inflammation and the destruction of predominantly small blood vessels. These conditions include granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and microscopic polyangiitis (MPA).
Achondroplasia Signs and Symptoms - Rare Disease Advisor
Achondroplasia, the most common type of short-limbed and short-stature dwarfism, is caused by a genetic mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which codes for a protein essential for bone growth and skeletal development.The average height in a person with achondroplasia is 4 ft (122 cm) for both sexes. 1,2 Common Signs …
MITIGATE Trial: Inebilizumab for IgG4-RD Is Efficacious and Safe
Nov 25, 2024 · In patients with immunoglobulin G4-related disease (IgG4-RD), treatment with inebilizumab is associated with a reduction in disease flares and an increased likelihood of 1-year flare-free complete remission, according to findings from the phase 3, multicenter, randomized, double-blind, placebo-controlled MITIGATE trial (NCT04540497) published in The New England Journal of Medicine.
Huntington Disease Epidemiology - Rare Disease Advisor
Huntington disease (HD) is a progressive, neurodegenerative, genetic disorder characterized by involuntary, unpredictable, sudden movements (chorea) of the extremities and facial muscles, as well as cognitive decline and emotional disturbances. 1,2 . Incidence and Prevalence of HD. In 2012, researchers conducted a systematic review and meta-analysis of the literature published between 1985 and ...
Primary Biliary Cholangitis Prognosis - Rare Disease Advisor
Primary biliary cholangitis (PBC) is a rare, chronic autoimmune disease in which cholestasis and immune-mediated inflammation lead to the destruction of small and medium-size intrahepatic bile ducts. Antimitochondrial antibodies (AMA), the hallmark serum biomarker of PBC, are found in approximately 90% to 95% of patients with PBC at presentation; these …
Myelodysplastic Syndromes Life Expectancy - Rare Disease Advisor
Jul 18, 2023 · Myelodysplastic syndromes (MDS) are a diverse group of clonal abnormalities of bone marrow hematopoietic stem cells characterized by the abnormal differentiation and maturation of blood cells. The usual clinical manifestations of MDS are anemia (decreased red blood cell levels), thrombocytopenia (decreased platelet levels), and leukopenia (decreased white blood cells levels). 1
Immune Thrombocytopenia Life Expectancy - Rare Disease Advisor
Dec 28, 2024 · Immune thrombocytopenia (ITP) is an autoimmune disease characterized by low platelet counts. 1-3 In ITP, the immune system mistakenly attacks and destroys platelets, which are essential for blood clotting. While destruction occurs primarily in the spleen, ITP can lead to various symptoms of bleeding, ranging from mild bruising and petechiae to severe and potentially life-threatening bleeding ...