GPP Linked to MEFV Variant Successfully Treated with Adalimumab
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IgG4-RD: A Mimicker of Multiple MalignanciesIn the past few years alone, researchers have reported myriad cases of IgG4-RD being mistaken for some type of malignancy. -
Boston Dermatologist Says the Most Severe Form of Psoriasis Can Be a ‘True Emergency’Generalized pustular psoriasis is the most serious form of psoriasis, with more than half of all patients with the condition needing hospitalization. -
Lifelong Care of the Patient With AchondroplasiaA polysomnography is recommended in the first year of life for patients with achondroplasia to identify abnormalities in breathing patterns. -
Rare Disease Researchers Warn NIH Budget Cuts Could Threaten Progress and Endanger LivesWith a $48 billion annual budget, the US National Institutes of Health is the world’s largest public funder of biomedical research. -
Clinicians Treating HAE Have Many Options, With More on the WayFour long-term prophylaxis and 4 on-demand therapies for hereditary angioedema are now on the market.
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I Am Going to WODC, Where I Will Advocate on Behalf of Rare Disease PatientsI live with indolent systemic mastocytosis (SM) and it is my goal to provide hope and help to anyone living with a rare disease.April 17, 2025 -
The Consequences of Temperature Swings When Coping With CADTemperature variations can cause hemoglobin fluctuations in people with cold agglutinin disease (CAD), leading to hemolysis and other symptoms of disease.April 16, 2025
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Living With Hemophilia: A Journey of Adaptation and AwarenessMy journey has taught me that while hemophilia may be a part of my life, it does not define me.April 15, 2025 -
A Mismatched Medication Creates Choppy Seas for This Traveler With MSWith a little planning, people with multiple sclerosis (MS) can enjoy traveling on cruise liners with helpful accessibility options.April 14, 2025
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Assessing Evidence for Best Second-Line Therapies in PBC CareResearchers seek to better predict patients with PBC who may be unresponsive to UDCA treatment in order to switch to second-line therapies. -
C5 Polymorphisms and Their Impact on Eculizumab EfficacyResearchers have investigated the C5 polymorphisms that impact the response to eculizumab in patients with PNH. -
Early Diagnosis of ATTR-PN May Be Both Vital and AchievableThe early diagnosis of transthyretin amyloid polyneuropathy is both vital to secure long-term outcomes and achievable. -
Massive Hemoptysis in IgG4-Related Respiratory DiseaseA patient with recurrent hemoptysis was eventually diagnosed with IgG4-related respiratory disease following extensive investigations. -
Using Markers of Prognosis to Estimate Survival in ATTR-CMThe ability to accurately predict survival/life expectancy in ATTR-CM can better inform clinical decision-making.
- Achondroplasia
- Acute Lymphoblastic Leukemia
- Alagille Syndrome
- Alpha-1 Antitrypsin Deficiency
- ANCA-Associated Vasculitis
- Cholangiocarcinoma
- Chronic Inflammatory Demyelinating Polyneuropathy
- Chronic Lymphocytic Leukemia
- Cold Agglutinin Disease
- Cystic Fibrosis
- Diffuse Large B-Cell Lymphoma
- Dravet Syndrome
- Duchenne Muscular Dystrophy
- Fetal and Neonatal Alloimmune Thrombocytopenia
- Friedreich Ataxia
- Gastrointestinal Stromal Tumor
- Generalized Pustular Psoriasis
- Hemolytic Disease of the Fetus and Newborn
- Hemophilia
- Hepatocellular Carcinoma
- Hereditary Angioedema
- Huntington Disease
- Idiopathic Pulmonary Fibrosis
- IgG4-Related Disease
- Immune Thrombocytopenia
- Lennox-Gastaut Syndrome
- Long Chain Fatty Acid Oxidation Disorder
- Lysosomal Acid Lipase Deficiency
- Medullary Thyroid Carcinoma
- Multiple Sclerosis
- Myasthenia Gravis
- Myelodysplastic Syndromes
- Myelofibrosis
- Neuromyelitis Optica Spectrum Disorder
- Paroxysmal Nocturnal Hemoglobinuria
- Pompe Disease
- Prader-Willi Syndrome
- Primary Biliary Cholangitis
- Primary Central Nervous System Lymphoma
- Pulmonary Arterial Hypertension
- Sickle Cell Disease
- Spinal Muscular Atrophy
- Systemic Mastocytosis
- Systemic Sclerosis
- Thymidine Kinase 2 Deficiency
- Transthyretin Amyloid Polyneuropathy
- Transthyretin-Mediated Amyloid Cardiomyopathy
- Wilson Disease
