Endocrine emergencies

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Schnitzler Syndrome: A Rare Autoinflammatory Disorder

By SWA
Schnitzler syndrome is a rare, chronic autoinflammatory disease characterized by chronic urticaria (hives), recurrent fever, joint pain, and monoclonal gammopathy (abnormal proteins in the blood). First described by Dr. Liliane Schnitzler in 1972 , this condition is often misdiagnosed, leading to years of untreated symptoms before a correct diagnosis is made. The case report, " A 58-Year-Old Woman With Urticaria, Fever, and Joint Pain " , describes a case that closely aligns with my own experience with this challenging disorder. Key Features of Schnitzler Syndrome Schnitzler syndrome presents with a characteristic set of symptoms, though not all patients experience them in the same way: Chronic Urticaria (Hives) – Persistent, non-itchy or mildly itchy red patches that do not respond to antihistamines. Monoclonal Gammopathy (IgM or IgG type) – Abnormal monoclonal immunoglobulin detected in the blood (most commonly IgM ). Recurrent Fever – Unexplained fever episodes, often...
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Dysferlin Protein: Key Roles, Genetic Locations

By SWA
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The purpose of this article is to share and discuss the details of a new discovery, which is highlighted within: CRISPR-Cas9: A Breakthrough Tool to Repair the DYSF Gene The dysferlin protein plays an essential role in maintaining the integrity of muscle cell membranes, particularly in tissues that endure significant mechanical stress, such as skeletal and cardiac muscles . Encoded by the DYSF gene , dysferlin is indispensable for repairing damaged cell membranes after injury caused by muscle contraction or external forces. This article explores the main locations where dysferlin is produced, its role in muscle repair, and supportive nutritional and therapeutic strategies for individuals with dysferlin deficiency, such as those affected by dysferlinopathies (e.g., Limb-Girdle Muscular Dystrophy Type 2B or Miyoshi Myopathy). Currently, there is no definitive answer as to why the severity of dysferlin protein expression or depletion varies. Do pathogens play a role in the methylation o...
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Very Long-Chain Fatty Acids (VLCFAs) X-ALD and Spinal Muscular Atrophy (SMA): Exploring the Connection

By SWA
Update Oct 28th 2024:  A Novel Mouse Model for Cerebral Inflammatory Demyelination in X-Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.27117 Very Long-Chain Fatty Acids (VLCFAs) are a specific type of fatty acid that are broken down in the body by specialized cellular structures called peroxisomes. These organelles play a critical role in maintaining metabolic balance by degrading VLCFAs. When this process is disrupted, VLCFAs accumulate in various tissues, which can lead to serious metabolic and neurological complications. Elevated VLCFA levels are characteristic of several peroxisomal disorders, most notably X-linked Adrenoleukodystrophy (X-ALD) and Zellweger Syndrome. In X-ALD, for example, a genetic defect impairs the peroxisomal breakdown of VLCFAs, resulting in their accumulation in the brain, spinal cord, and adrenal glands. This buildup can cause progressive neurological damag...
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