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Myasthenia gravis (MG) is a rare, chronic autoimmune disorder characterized by weakness and fatigue of voluntary muscles. The clinical course of MG is variable but usually progressive, and patients tend to experience fluctuating symptoms. There is an estimated prevalence of 18 cases of MG per 100,000 people in the United States. For women, disease onset typically occurs around their 20s and 30s, whereas for men it peaks in their 50s and 60s. Overall, MG affects women more frequently than men. The disease is most often caused by autoantibodies that target the acetylcholine receptor or muscle-specific tyrosine kinase receptor at the neuromuscular junction, disrupting normal muscular function. Symptoms typically emerge in the eyes (e.g., drooping eyelids, double vision, blurred vision) and progress into the face, throat, or limbs. Some patients may experience life-threatening respiratory complications due to the weakening of muscles involved in respiration.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune neurological disorder characterized by damage to the myelin sheaths or the nodes on nerve fibers of the peripheral nervous system. Though the clinical course of CIDP can be variable, it is typically a chronic progressive disease if left untreated. CIDP is a rare disease that can occur at any age group, with peak onset being in the 60s and 70s. CIDP affects men twice as much as women. Its prevalence is estimated to be almost 9 per 100,000 people in the United States. CIDP appears to be mediated, at least in some patients, by IgG antibodies that are directed against targets in the myelin sheath; however, the specific target of these antibodies is not yet established. The hallmark signs of CIDP are weakness, tingling sensations, or loss of sensation in the arms and legs that is usually symmetrical and gradually worsens.

Thyroid eye disease (TED), also known as Graves’ ophthalmopathy, is an autoimmune disorder affecting the tissues around the eyes. It is a progressive and clinically variable disease that can become debilitating, disfiguring, or sight-threatening. The incidence of TED in the United States is estimated to be approximately 10 per 100,000. TED can be caused by IgG autoantibodies that form against the thyroid-stimulating hormone receptor (TSHR). These antibodies, which also cause Graves’ disease, target the extraocular space and result in clinical manifestations of the disease. Common signs of disease include proptosis (eye bulging), tearing, periorbital edema (swelling around the eyes), redness, dry eyes, eye irritation, and pain behind the eyes; in severe cases, double vision or vision loss may occur.

Graves’ disease is an autoimmune disorder associated with the overproduction of thyroid hormones and is the most common cause of hyperthyroidism. Although Graves’ disease can affect any age group or gender, it occurs often in women younger than 40 years of age, with an estimated incidence of 35 per 100,000 in the United States. The disease is mediated by thyroid-stimulating IgG antibodies that cause the thyroid gland to produce an excess of thyroid hormones, resulting in systemic manifestations that affect multiple organs. Patients typically present with classic signs and symptoms of hyperthyroidism, such as heat intolerance, weight loss, anxiety, and frequent bowel movements. The disease can also manifest with ophthalmopathy (e.g., eye redness, swelling, bulging) or dermopathy. If left untreated, patients may develop arrhythmias, heart failure, or life-threatening thyroid storms.

Rheumatoid Arthritis (RA) is a chronic, progressive autoimmune disease that causes inflammation in the joints and surrounding tissues. RA is the most common systemic autoimmune disease. Inadequate control of the joint inflammation associated with RA may result in irreversible joint erosions. Difficult-to-treat (D2T) RA is characterized by inadequate response to two or more biologic or targeted synthetic disease-modifying antirheumatic drugs (DMARDs), signs suggestive of active/progressive disease, and symptom management viewed as problematic by the physician or patient. The exact cause of RA is not completely known but is associated with a variety of genetic, hormonal and environmental factors. RA can occur at any age, but it is more commonly diagnosed in middle age and women are more likely to be affected than men. RA affects 18 million persons globally and 1.5 million persons in the United States. Several autoantibodies have been identified in RA. Among these are rheumatoid factor (“RF”) and anti-citrullinated protein antibodies (“ACPA”). These autoantibodies are found in 70-80% of RA patients and amplify inflammation via immune complex formation. Autoantibodies are associated with D2T RA, severe disease, and poor outcomes despite current available therapies. Symptoms include joint pain, swelling, stiffness and tenderness, fatigue, and fever. Organs like blood vessels, kidneys, heart, lungs and liver can also be affected by RA.  

References

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  • Sudulagunta S.R., et al. Refractory myasthenia gravis – clinical profile, comorbidities and response to rituximab. German Medical Science, 2016
  • Davies T. and Burch H.B. Clinical features and diagnosis of Graves’ orbitopathy (ophthalmopathy), UpToDate, 2018
  • McAlinden C. An overview of thyroid eye disease. Eye and Vision, 2014
  • Mathey EK, Park SB, Hughes RAC, et al Chronic inflammatory demyelinating polyradiculoneuropathy: from pathology to phenotype Journal of Neurology, Neurosurgery & Psychiatry 2015
  • Koike H, Katsuno M. Pathophysiology of Chronic Inflammatory Demyelinating Polyneuropathy: Insights into Classification and Therapeutic Strategy. Neurol Ther. 2020 Dec;9(2):213-227. doi: 10.1007/s40120-020-00190-8. Epub 2020 May 14
  • Stern RA, et al., Jr. A survey study of neuropsychiatric complaints in patients with Graves' disease. J Neuropsychiatry Clin Neurosci. 1996 Spring;8(2):181-5. doi: 10.1176/jnp.8.2.181. PMID: 9081554
  • Girgis CM, Champion BL, Wall JR. Current concepts in Graves' disease. Ther Adv Endocrinol Metab. 2011 Jun;2(3):135-44. doi: 10.1177/2042018811408488. PMID: 23148179; PMCID: PMC3474632
  • Roumier M., et al. Characteristics and outcome of warm autoimmune hemolytic anemia in adults: new insights based on a single-center experience with 60 patients. American Journal of Hematology, 2014