Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Immunoglobulin G4 (IgG4)-related disease is characterized by the typical histopathological features of a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, a high ratio of IgG4- to IgG-positive cells, storiform fibrosis (cellular fibrosis organized in an irregular whorled pattern), obliterative phlebitis, and variable presence of eosinophils. The disease exhibits systemic involvement but very rarely involves the esophagus. A 33-year-old man was admitted to our hospital for evaluation of a 1-year history of progressive dysphagia. Neck imaging revealed a 3.9-cm mass in the cervical esophagus and multifocal calcified lymph nodes in the lower neck and mediastinum. Two previous tertiary hospitals failed to diagnose the patient's condition despite the use of ultrasound-guided needle biopsy of the neck tumor. We performed neck imaging studies, a flexible endoscopic swallowing study, high-resolution manometry, upper endoscopy, and a review of the previous pathologic slides. The patient was finally diagnosed with IgG4-related esophagitis and showed a good response to corticosteroid therapy. We herein report a rare case of dysphagia associated with IgG4-related disease and present a review of the literature.
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PMID:Esophageal Involvement of Immunoglobulin G4-Related Disease: A Case Report and Literature Review. 2668 18

Riedel's thyroiditis (RT) represents one type of IgG4-related thyroid disease (IgG4RTD) and the diagnosis involves quantitative immunohistochemistry showing dense lymphoplasmacellular inflammatory infiltrate consisting of IgG4-positive plasma cells with storiform fibrosis and obliterative phlebitis. We report a case of RT with progressive enlargement of the anterior neck, severe dysphagia, odynophagia, and dyspnea. The patient underwent surgical decompression of the airway, protection tracheotomy, and gastrostomy for nutritional intake 6 months after first symptoms. Complete resolution occurred after surgical treatment combined with prednisolone. Immunostaining revealed IgG4-positive plasma cells 12/HPF (high-power field) and the IgG4/IgG ratio 25%, values that were disproportionate to the intensity of the patient's symptoms. As to this case and the few cases described and analyzed in the literature, our impression is that there is no relation between the intensity of symptoms in RT with the total number of IgG4-positive plasma cells and the IgG4/IgG ratio, but more studies are needed.
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PMID:Does the Intensity of IGG4 Immunostaining Have a Correlation with the Clinical Presentation of Riedel's Thyroiditis? 2985 Feb 88

IgG4-related disease is characterized by lymphoplasmacytic inflammation and fibrosis, often leading to mass-forming lesions in different organs. When IgG4-related disease affects the bile ducts, it is called IgG4-related sclerosing cholangitis. A 74-year-old male complained of dysphagia and abdominal pain. Endoscopic retrograde cholangiography and magnetic resonance cholangiography revealed bile duct changes suspicious of a bile duct carcinoma or cholangitis. Liver biopsy showed storiform fibrosis, lymphoplasmacytic infiltration, obliterative phlebitis, and a portal-based inflammatory nodule with expansion of a portal tract. Hot spots revealed 339 IgG4-positive cells per high power field (HPF) and an IgG4/IgG ratio of 72%. Eight months earlier, an inguinal lymph node had been removed, showing expanded interfollicular zones and increased plasma cells. Hot spots revealed 593 IgG4-positive cells and an IgG4/IgG ratio of 92%. The serum IgG4 of the patient was elevated nearly 10 times upper limit of normal. The diagnosis of IgG4-related sclerosing cholangitis associated with IgG4-related lymphadenopathy was made. There was good response to treatment with prednisolone and azathioprine. The differentiation of IgG4-related sclerosing cholangitis from primary sclerosing cholangitis and bile duct carcinoma is often difficult. Liver biopsy only rarely contributes to this setting, but we describe and report in detail a case where liver biopsy showed a portal-based inflammatory nodule with the characteristic features of this disease.
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PMID:IgG4-Related Sclerosing Cholangitis Involving the Intrahepatic Bile Ducts Diagnosed with Liver Biopsy. 3030 74

BACKGROUND Riedel's thyroiditis is a rare form of immunoglobulin G (IgG) 4-related invasive fibrosis of the thyroid gland; given its scarce incidence, standardized therapeutic guidelines are unavailable. Although complications are unusual, obstructive symptoms produced by the stony-hard goiter may put patients' lives at risk. The diagnosis must be biopsy-proven, and treatment consists of thyroid hormone replacement and anti-inflammatory drugs, although sometimes thyroidectomy may be required. CASE REPORT A 69-year-old woman presented with a 7-month history of progressive hypothyroidism and obstructive dysphagia. On physical examination, she had a large, stony-hard goiter. A Doppler ultrasound study revealed a massive, avascular enlargement of the thyroid gland. A computed tomography scan failed to demonstrate any extrathyroidal extension of the abnormal tissue. A Tru-Cut biopsy of the thyroid was performed. Extensive replacement of thyroid follicles by prominent bands of fibrous tissue was observed, with follicular obliteration and mild focal occlusive phlebitis. A lymphoplasmacytic infiltrate was clearly identified; no oxyphilic nor giant cells were found. On immunohistochemistry, the immunoglobulin G (IgG) 4/IgG ratio in the plasma cell infiltrate was 40%; increased serum IgG4 levels were also found, supporting the diagnosis of Riedel's thyroiditis. The patient was successfully treated with levothyroxine replacement and tamoxifen with prompt resolution of obstructive symptoms. CONCLUSIONS Fibrous thyroiditis should be considered in the differential diagnosis of primary hypothyroidism in a patient with a stony-hard goiter. Although steroids are often used as a therapeutic strategy for this disease, our patient had an excellent therapeutic response to tamoxifen, avoiding adverse effects associated with steroid therapy, the higher cost of monoclonal antibody therapy, and surgery-associated risks.
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PMID:IgG4-Related Fibrous Thyroiditis (Riedel's Thyroiditis): A Case Report. 3317 82