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)

A 54-year-old Korean male with scleroderma-like manifestation of primary systemic amyloidosis presented with firm cutaneous induration of face and distal extremities, subcutaneous induration of the trunk and proximal extremities, limited range of motion in all joints, hoarseness, and dysphagia. Monthly high-dose intravenous immunoglobulin (hdIVIg) was given (three treatments, each time administering 0.4 g/kg per day for five days), and both signs and symptoms began to improve. However, the quantitative analyses of serum protein did not improve. Therapeutic plasma exchange (TPE) was performed monthly to clear the elevated serum immunoglobulin, and after several treatments, their levels normalized and symptoms were maintained in the improved state for more than two years. To summarize, hdIVIg and TPE combination therapy may be used as a safe first-line treatment for patients with primary systemic amyloidosis presenting with symptomatic monoclonal gammopathy.
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PMID:Scleroderma-like manifestation in a patient with primary systemic amyloidosis: response to high-dose intravenous immunoglobulin and plasma exchange. 1706 19

Primary amyloidosis involving the thyroid gland is rare and limited to case reports. We report the case of a previously healthy 47-year-old female presenting with a 1-month history of nausea, vomiting, and diffuse thyroid enlargement. Over the next 3 months, she simultaneously developed renal insufficiency dysphagia and hoarseness of voice. Biopsies from the gastric antrum, duodenum, bone marrow, and kidney were positive for vascular deposition of amyloid. Ultrasound of the thyroid revealed diffuse enlargement of the thyroid gland, which was 32.8 ML in volume, with diffuse hyperechogenicity. Fine needle aspiration (FNA) biopsy was positive for amyloid by Congo red staining, and cytology was negative for malignancy. The patient was treated with dexamethasone 40 mg daily on days 1-4, 9-12, and 17-20 for 3 months. On 3-month follow-up, the patient's nausea and vomiting had resolved and renal insufficiency improved. Ultrasound of the thyroid demonstrated decrease in the size of the goiter to 23.2 ML. Amyloid goiter is seen only in approximately 0.04% of patients with primary systemic amyloidosis. No data is currently available regarding treatment of primary amyloidosis and its effect on the goiter. However, we have evidence demonstrating that successful treatment of amyloidosis decreases thyroid enlargement and improves organ dysfunction.
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PMID:Amyloid goiter as a manifestation of primary systemic amyloidosis. 1727 55

We present a 69-year-old male patient with the macroglossia, dysphagia and generalized edema. He was seen previously by other physicians and diagnosed as hypothyroidism. With thyroid stimulating hormone in normal range, tongue biopsy revealed primary systemic amyloidosis. Amyloidosis is the most common cause of macroglossia. Primary systemic amyloidosis should be suspected when laboratory does not support hypothyroidism especially if the enlarged tongue is firm and additional findings are present.
Dysphagia 2012 Jun
PMID:Macroglossia and generalized edema not due to hypothyroidism. 2205 49