scholarly journals Neurological manifestations of Graves’ disease: A case report and review of the literature

2016 ◽  
Vol 7 (01) ◽  
pp. 153-156 ◽  
Author(s):  
Swayamsidha Mangaraj ◽  
Arun Kumar Choudhury ◽  
Binoy Kumar Mohanty ◽  
Anoj Kumar Baliarsinha
Keyword(s):  
Similar Case ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Diagnostic Dilemma ◽  
Ocular Manifestations ◽  
Thyroid Associated Ophthalmopathy ◽  
Organ Specific ◽  
High Degree

ABSTRACTGraves’ disease (GD) is characterized by a hyperfunctioning thyroid gland due to stimulation of the thyroid-stimulating hormone receptor by autoantibodies directed against it. Apart from thyrotoxicosis, other clinical manifestations include ophthalmopathy, dermopathy, and rarely acropachy. GD is an organ-specific autoimmune disorder, and hence is associated with various other autoimmune disorders. Myasthenia gravis (MG) is one such disease, which is seen with patients of GD and vice versa. Though the association of GD and myasthenia is known, subtle manifestations of latter can be frequently missed in routine clinical practice. The coexistence of GD and ocular MG poses a significant diagnostic dilemma to treating physicians. The ocular manifestations of myasthenia can be easily missed in case of GD and falsely attributed to thyroid associated ophthalmopathy due to closely mimicking presentations of both. Hence, a high degree of the clinical vigil is necessary in such cases to appreciate their presence. We present a similar case which exemplifies the above said that the clinical challenge in diagnosing coexistent GD and ocular myasthenia.

scholarly journals Current concepts in the diagnosis and management of antiphospholipid syndrome and ocular manifestations

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gunay Uludag ◽  
Neil Onghanseng ◽  
Anh N. T. Tran ◽  
Muhammad Hassan ◽  
Muhammad Sohail Halim ◽  
...  
Keyword(s):  
Antiphospholipid Syndrome ◽  
Antiphospholipid Antibodies ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Ocular Involvement ◽  
Ocular Manifestations ◽  
Different Types ◽  
Thrombotic Complications ◽  
Specific Factors ◽  
Arteries And Veins

AbstractAntiphospholipid syndrome (APS) is an autoimmune disorder associated with obstetrical complications, thrombotic complications involving both arteries and veins, and non-thrombotic manifestations affecting multiple other systems presenting in various clinical forms. Diagnosis requires the presence of antiphospholipid antibodies. The exact pathogenesis of APS is not fully known. However, it has recently been shown that activation of different types of cells by antiphospholipid antibodies plays an important role in thrombosis formation. Ocular involvement is one of the important clinical manifestations of APS and can vary in presentations. Therefore, as an ophthalmologist, it is crucial to be familiar with the ocular findings of APS to prevent further complications that can develop. Furthermore, the ongoing identification of new and specific factors contributing to the pathogenesis of APS may provide new therapeutic options in the management of the disease in the future.

scholarly journals Graves Disease in Childhood

2021 ◽  
Author(s):  
Madhukar Mittal ◽  
Vanishri Ganakumar
Keyword(s):  
Thyroid Hormone ◽  
Side Effects ◽  
Age Of Onset ◽  
Severe Disease ◽  
Clinical Manifestations ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Older Children ◽  
Prepubertal Children ◽  
Pediatric Age Group

Graves’ disease (GD) is an autoimmune disease caused by autoantibodies against thyroid stimulating hormone receptor (TSH-R), resulting in stimulation of thyroid gland and overproduction of thyroid hormones resulting in clinical manifestations. It is uncommon in children and is 6 times more prevalent in females. The symptomatology, clinical and biochemical severity are a function of age of onset of disease. Prepubertal children tend to present with weight loss and bowel frequency, associated with accelerated growth and bone maturation. Older children are more likely to present with the classical symptoms of thyrotoxicosis like palpitations, tremors and heat intolerance. Prepubertal children tend to have a more severe disease, longer duration of complaints and higher thyroid hormone levels at presentation than the pubertal and postpubertal children. The non-specificity of some of the symptoms in pediatric age group can lead to children being initially seen by other specialities before being referred to endocrinology. Management issues are decided based on patient’s priorities and shared decision making between patient and treating physician. Radioactive Iodine Ablation is preferred when there is relatively higher value placed on Definitive control of hyperthyroidism, Avoidance of surgery, and potential side effects of ATDs. Similarly Antithyroid drugs are chosen when a relatively higher value is placed on possibility of remission and avoidance of lifelong thyroid hormone treatment, Avoidance of surgery, Avoidance of exposure to radioactivity. Surgery is preferred when access to a high-volume thyroid surgeon is available and a relatively higher value is on prompt and definitive control of hyperthyroidism, avoidance of exposure to radioactivity and avoidance of potential side effects of ATDs. Continental differences with regards to management do exist; radio-iodine ablation being preferred in North America while Anti-thyroid drug treatment remains the initial standard care in Europe.

scholarly journals The Role of the Microbiota in Graves’ Disease and Graves’ Orbitopathy

2021 ◽  
Vol 11 ◽  
Author(s):  
Jueyu Hou ◽  
Yunjing Tang ◽  
Yongjiang Chen ◽  
Danian Chen
Keyword(s):  
Gut Microbiota ◽  
Negative Impact ◽  
Bifidobacterium Longum ◽  
Autoimmune Disorder ◽  
Thyroid Stimulating Hormone ◽  
Clinical Syndrome ◽  
Graves Disease ◽  
Material Transfer ◽  
T Helper 17 ◽  
Graves Orbitopathy

Graves‘ disease (GD) is a clinical syndrome with an enlarged and overactive thyroid gland, an accelerated heart rate, Graves’ orbitopathy (GO), and pretibial myxedema (PTM). GO is the most common extrathyroidal complication of GD. GD/GO has a significant negative impact on the quality of life. GD is the most common systemic autoimmune disorder, mediated by autoantibodies to the thyroid-stimulating hormone receptor (TSHR). It is generally accepted that GD/GO results from complex interactions between genetic and environmental factors that lead to the loss of immune tolerance to thyroid antigens. However, the exact mechanism is still elusive. Systematic investigations into GD/GO animal models and clinical patients have provided important new insight into these disorders during the past 4 years. These studies suggested that gut microbiota may play an essential role in the pathogenesis of GD/GO. Antibiotic vancomycin can reduce disease severity, but fecal material transfer (FMT) from GD/GO patients exaggerates the disease in GD/GO mouse models. There are significant differences in microbiota composition between GD/GO patients and healthy controls. Lactobacillus, Prevotella, and Veillonella often increase in GD patients. The commonly used therapeutic agents for GD/GO can also affect the gut microbiota. Antigenic mimicry and the imbalance of T helper 17 cells (Th17)/regulatory T cells (Tregs) are the primary mechanisms proposed for dysbiosis in GD/GO. Interventions including antibiotics, probiotics, and diet modification that modulate the gut microbiota have been actively investigated in preclinical models and, to some extent, in clinical settings, such as probiotics (Bifidobacterium longum) and selenium supplements. Future studies will reveal molecular pathways linking gut and thyroid functions and how they impact orbital autoimmunity. Microbiota-targeting therapeutics will likely be an essential strategy in managing GD/GO in the coming years.

scholarly journals Considerations for Thyroidectomy as Treatment for Graves Disease

2019 ◽  
Vol 12 ◽  
pp. 117955141984452 ◽  
Author(s):  
Mary Smithson ◽  
Ammar Asban ◽  
Jason Miller ◽  
Herbert Chen
Keyword(s):  
Clinical Manifestations ◽  
Endocrine System ◽  
Thyroid Stimulating Hormone ◽  
Clinical State ◽  
Antithyroid Drugs ◽  
Graves Disease ◽  
Replacement Rate ◽  
Free T4 ◽  
Organ Systems ◽  
Toxic Multinodular Goiter

Hyperthyroidism is a clinical state that results from abnormally elevated thyroid hormones. Thyroid gland affects many organ systems; therefore, patients usually present with multiple clinical manifestations that involve many organ systems such as the nervous, cardiovascular, muscular, and endocrine system as well as skin manifestations. Hyperthyroidism is most commonly caused by Graves disease, which is caused by autoantibodies to the thyrotropin receptor (TRAb). Other causes of hyperthyroidism include toxic multinodular goiter, toxic single adenoma, and thyroiditis. Diagnosis of hyperthyroidism can be established by measurement of thyroid-stimulating hormone (TSH), which will be suppressed with either elevated free T4 and/or T3 (overt hyperthyroidism) or normal free T3 and T4 (subclinical hyperthyroidism). Hyperthyroidism can be treated with antithyroid drugs (ATDs), radioactive iodine (RAI), or thyroidectomy. ATDs have a higher replacement rate when compared with RAI or thyroidectomy. Recent evidence has shown that thyroidectomy is a very effective, safe treatment modality for hyperthyroidism and can be performed as an outpatient procedure. This review article provides some of the most recent evidence on diagnosing and treating patients with hyperthyroidism.

scholarly journals Thyroid-stimulating hormone receptor (TSHR) fusion proteins in Graves’ disease

2020 ◽  
Vol 246 (2) ◽  
pp. 135-147
Author(s):  
Hans-Peter Holthoff ◽  
Kerstin Uhland ◽  
Gabor Laszlo Kovacs ◽  
Andreas Reimann ◽  
Kristin Adler ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fusion Proteins ◽  
Recombinant Adenovirus ◽  
Disease Model ◽  
Autoimmune Disorder ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Serum Samples

Graves’ disease is an autoimmune disorder, which is characterized by stimulatory antibodies targeting the human thyrotropin receptor (TSHR), resulting in hyperthyroidism and multiple organ damage. We systematically investigated monomeric and dimeric fusion proteins of the A subunit of TSHR for efficacy to bind to the monoclonal patient antibody M22, to interact with Graves’ patient serum samples, and to impact on anti-TSHR antibody titers, hyperthyroidism, tachycardia and other in vivo read-outs in a long-term mouse model of Graves’ disease induced by immunization with a recombinant adenovirus encoding TSHR A. Binding assays and functional measurements of TSHR-dependent cAMP formation showed binding of monomeric TSHR-His and dimeric TSHR-Fc to the anti-TSHR antibody M22 at low-effective concentrations (EC50 of 5.7 nmol/L and 8.6 nmol/L) and inhibition of the effects of this antibody at high efficiencies (IC50 values of 16–20 nmol/L). Both proteins also block the effects of polyclonal anti-TSHR antibodies occurring in Graves’ patient sera with somewhat lower average efficiencies (mean IC50 values of 29 nmol/L and 68 nmol/L). However, in vivo characterization of epicutaneous patch administrations of TSHR-Fc at doses of 0.3 and 0.6 mg/kg body weight in a murine Graves’ disease model did not result in any improvement of disease parameters. In conclusion, high affinity binding of TSHR-Fc to pathological anti-TSHR antibodies was not matched by efficacy to improve Graves’ disease parameter in a long-term mouse model.

scholarly journals Decreased Treg Cell and TCR Expansion Are Involved in Long-Lasting Graves’ Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Ziyi Chen ◽  
Yufeng Liu ◽  
Shiqian Hu ◽  
Meng Zhang ◽  
Bingyin Shi ◽  
...  
Keyword(s):  
T Cell ◽  
Treg Cell ◽  
Flow Cytometric Analysis ◽  
Autoimmune Disorder ◽  
Cell Receptor ◽  
Treg Cells ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Rna Seq ◽  
Flow Cytometric

Graves’ disease (GD) is a T cell-mediated organ-specific autoimmune disorder. GD patients who have taken anti-thyroid drugs (ATDs) for more than 5 years with positive anti-thyroid stimulating hormone receptor autoantibodies value were defined as persistent GD (pGD). To develop novel immunotherapies for pGD, we investigated the role of T cells in the long-lasting phase of GD. Clinical characteristics were compared between the pGD and newly diagnosed GD (nGD) (N = 20 respectively). Flow cytometric analysis was utilized to determine the proportions of Treg and Th17 cells (pGD, N = 12; nGD, N = 14). T cell receptor sequencing (TCR-seq) and RNA sequencing (RNA-seq) were also performed (pGD, N = 13; nGD, N = 20). Flow cytometric analysis identified lower proportions of Th17 and Treg cells in pGD than in nGD (P = 0.0306 and P = 0.0223). TCR-seq analysis revealed a lower diversity (P = 0.0025) in pGD. Specifically, marked clonal expansion, represented by an increased percentage of top V-J recombination, was observed in pGD patients. Interestingly, pGD patients showed more public T cell clonotypes than nGD patients (2,741 versus 966). Meanwhile, RNA-seq analysis revealed upregulation of the inflammation and chemotaxis pathways in pGD. Specifically, the expression of pro-inflammatory and chemotactic genes (IL1B, IL13, IL8, and CCL4) was increased in pGD, whereas Th17 and Treg cells associated genes (RORC, CARD9, STAT5A, and SATB1) decreased in pGD. Additionally, TCR diversity was negatively correlated with the expression of pro-inflammatory or chemotactic genes (FASLG, IL18R1, CCL24, and CCL14). These results indicated that Treg dysregulation and the expansion of pathogenic T cell clones might be involved in the long-lasting phase of GD via upregulating chemotaxis or inflammation response. To improve the treatment of pGD patients, ATDs combined therapies, especially those aimed at improving Treg cell frequencies or targeting specific expanded pathogenic TCR clones, are worth exploring in the future.

Diagnosis of Graves’ disease – laboratory tests and possible difficulties in interpretation

2019 ◽  
Vol 55 (2) ◽  
pp. 121-128
Author(s):  
Agata Maria Kalicka
Keyword(s):  
Autoimmune Disorder ◽  
Laboratory Diagnosis ◽  
Iodine Intake ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Free Triiodothyronine ◽  
Disease Diagnostics ◽  
Assay Methods ◽  
Receptor Antibodies ◽  
Tsh Receptor Antibodies

Graves’ disease is an autoimmune disorder and the most common cause of hyperthyroidism in areas with sufficient iodine intake. Laboratory diagnosis of thyroid function disorders is based on the performance of tests assessing the thyroid hormone activity, and thus the concentration of thyroid-stimulating hormone (TSH), free thyroxine (fT4), free triiodothyronine (fT3). In order to confirm diagnosis of Graves’ disease, it is necessary to obtain the positive titre of TSH receptor antibodies (TRAb). Despite the continuous improvement of available assay methods, there are still situations causing difficulties in interpretation. Abnormal structure of the TSH molecule, heterophile antibodies, drugs or systemic diseases affect the concentrations of the hormones. In the following review article the above-mentioned parameters as well as limitations and difficulties of interpretation offered by Graves’ disease diagnostics was discussed.

scholarly journals Acute Drug-Induced Cholestatic Syndrome in Basedow Graves’ Disease

2020 ◽  
Vol 5 (2) ◽  
pp. 81-85 ◽  
Author(s):  
Robert Aurelian Tiucă ◽  
Alina Mioara Boeriu ◽  
Rareș Adrian Georgescu ◽  
Ionela Maria Pașcanu
Keyword(s):  
Liver Damage ◽  
Therapeutic Option ◽  
Autoimmune Disorder ◽  
Thyroid Stimulating Hormone ◽  
Antithyroid Drugs ◽  
Graves Disease ◽  
Drug Induced ◽  
Immune Mediated ◽  
Viral Hepatitis A ◽  
Cholestatic Syndrome

AbstractIntroduction: Graves’ disease (GD), an autoimmune disorder caused by high levels of auto-antibodies against the thyroid-stimulating hormone receptor, is considered the most common cause of thyrotoxicosis, characterized by features such as goiter, ophthalmopathy and dermopathy. In our country, the administration of antithyroid drugs (ATD) is the first line of treatment in this disease. Side effects are rare but some of them, such as agranulocytosis or liver damage, may become serious.Case presentation: We report the case of a 20-year-old female patient who was diagnosed with GD after being previously diagnosed with viral hepatitis A. Treatment was initiated with methimazole 30 mg/day, and three weeks later she developed intense hepatic cytolysis and cholestatic syndrome, therefore the ATD was stopped. A suspicion of autoimmune liver disease was raised, and a liver biopsy was performed in order to establish the diagnosis. The next therapeutic option for hyperthyroidism was radioactive iodine (RAI). Three months following RAI, the patient presented severe hypothyroidism, thereupon treatment with levothyroxine was initiated.Conclusions: Although severe acute liver injury is rare, mild liver dysfunction is quite common in patients with GD. The overproduction of thyroid hormones, or the treatment with ATD through immune mediated processes or drug reactions, represent possible mechanisms responsible for liver damage.

scholarly journals Graves’ Disease and Pregnancy

2021 ◽  
Author(s):  
Nikolay Petrov Botushanov ◽  
Aleksandar Nikolaev Botushanov ◽  
Albena Dimitrova Botushanova
Keyword(s):  
Thyroid Gland ◽  
Beta Blockers ◽  
First Trimester ◽  
Thyroid Stimulating Hormone ◽  
Thyroid Storm ◽  
Graves Disease ◽  
Maternal Complications ◽  
Low Birth Weight Infants ◽  
Organ Specific ◽  
And Function

Graves’ disease is an autoimmune organ specific disease characterized by excessive production of hormones from the thyroid gland and by its diffuse enlargement. The growth and function of the thyroid gland are stimulated by autoantibodies directed against the thyroid-stimulating hormone receptor. Pregnancies complicated by Graves’ disease are characterized with higher incidence of abortion, preterm delivery, low-birth- weight infants and neonatal mortality, as well as maternal complications such as heart failure, eclampsia and rarely thyroid storm. When fully controlled hyperthyroidism have excellent outcomes. Different therapeutic approaches are used in women with Graves’ planning pregnancy and in those when the disease is diagnosed after they became pregnant. Thionamides are the first choice for treatment, with Propylthyouracil being preferred for the first trimester and Methimazole for the second and third trimester. Aplasia cutis and some other malformations were associated with methimazole use during pregnancy. Monitoring the effect of treatment should ensure keeping maternal FT4 in the high normal range. Block-and replace regimen is not recommended and rdioiodine therapy is absolutely contraindicated. Thyroidectomy may be considered before pregnancy or in rare cases in the second trimester. Iodine is avoided because of the risk of fetal hypothyroidism and goiter. The use of beta-blockers is controversial. Noenatal thyrotoxicosis may occur in association with maternal Graves’ disease due to maternal TSAbs cross through the placenta.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

2020 ◽  
Author(s):  
Siddaramappa J. Patil ◽  
Shruti Pande ◽  
Jyoti Matalia ◽  
Venkatraman Bhat ◽  
Minal Kekatpure ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Facial Dysmorphism ◽  
Ocular Manifestations ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Posterior Fossa Malformations ◽  
Midline Cleft

AbstractKnobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1. KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

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