1/11. Amyloid goiter with parathyroid involvement: a case report and review of the literature.Although involvement of the thyroid gland by amyloid is a relatively common phenomenon, diffuse enlargement of the gland secondary to infiltration by amyloid is infrequent. We report the pathologic findings in a case of primary amyloid goiter with involvement of a parathyroid gland in an euthyroid patient who presented to his physician with an enlarged thyroid, upper airway obstructive symptoms, and dysphagia. The clinical features of amyloid goiter, including difficulties in preoperative diagnosis and management, are discussed.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/11. Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid communication.BACKGROUND: The recent identification of genes responsible for syndromes of periodic fever with amyloidosis has opened the way to a molecular diagnosis of hereditary AA amyloidosis. methods: A Belgian woman presented for genetic counseling. Three first-degree relatives had a diagnosis of renal amyloidosis with a history of recurrent fever and inflammatory episodes. medical records and pathological specimens were obtained from all physicians who had been in charge of her three relatives. Immunohistochemical staining was performed on paraffin-embedded material. A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively. RESULTS: The family history was consistent with autosomal-dominant transmission of periodic fever with arthralgias, abdominal pain, and eventual AA amyloidosis involving the kidneys, digestive tract, and thyroid. Recurrent amyloidosis in kidney graft was demonstrated in one patient and was suspected in the other. A novel heterozygous mutation (C55S) in TNFRSF1A was identified in the affected patient available for genetic testing but not in the asymptomatic woman requiring counseling. No mutation was detected in MEFV. CONCLUSIONS: We report a novel mutation (C55S) in TNFRSF1A, resulting in autosomal-dominant periodic fever and AA amyloidosis. This condition, known as TRAPS, should be added to the differential diagnosis of hereditary renal amyloidosis, with obvious implications for management and genetic counseling.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/11. Bilateral carpal tunnel syndrome as a clue for the diagnosis of systemic amyloidosis.A 60-year-old Swiss woman presented with a 1-year history of periorbital hemorrhagic papules, a tendency to develop hematoma due to minor trauma and shortness of breath. The personal medical history included surgery for bilateral carpal tunnel syndrome (CTS) 2 years ago. Clinical and laboratory findings included macroglossia, Bence-Jones proteinuria, reticular lung infiltrates, thickening of the ventricular walls in echocardiography and increase in atypical plasma cells in the bone marrow. The coexistence of the specific symptoms of CTS, macroglossia and cutaneous lesions should immediately alert the physician to the probable existence of plasma-cell-dyscrasia-related systemic amyloidosis.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/11. A deceptive case of amyloid myopathy: clinical and magnetic resonance imaging features.Amyloid myopathy is a well-described, increasingly recognized clinical entity. Similar to inflammatory myopathies, amyloid myopathy presents with proximal muscle weakness and can be associated with elevated levels of muscle enzymes. We report the case of a 58-year-old woman who, at presentation to her physician with proximal muscle weakness and congestive heart failure, was antinuclear antibody positive and had muscle biopsy findings "consistent with inflammatory myopathy." She was referred to Johns Hopkins University Medical Center with the diagnosis of polymyositis. Further investigation revealed a monoclonal gammopathy, a unique patterning of subcutaneous fat reticulation and hypodense bone marrow changes on magnetic resonance imaging (MRI), and an endocardial biopsy sample that was positive for light chain amyloid deposition. paraffin sections of the muscle biopsy sample from the time of her original presentation were obtained, and congo red staining showed diffuse amyloid deposition throughout the sample, but no inflammation. This case not only illustrates that proximal muscle weakness due to primary amyloid myopathy (as found in light chain amyloidosis and transthyretin amyloidosis) can mimic that of polymyositis, but also shows that unique findings on MRI can alert the clinician to the diagnosis of amyloidosis prior to muscle biopsy.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/11. A family with gastrointestinal amyloidosis associated with variant lysozyme.Hereditary nonneuropathic systemic lysozyme amyloidosis is a very rare form of amyloidosis, and only 4 families with this condition have been detailed until now in the literature. Clinical manifestations of lysozyme amyloidosis observed until now mainly concerned the kidneys, liver, and digestive tract. We report here a new family with hereditary lysozyme amyloidosis who presented predominantly with gastrointestinal involvement. The proband, a middle-aged woman, underwent partial gastrectomy for a hemorrhagic "gastric peptic ulcer" in 1984. Gastrointestinal amyloidosis was diagnosed in 1998 on biopsies performed on the gastroduodenal anastomosis, which appeared to be very congestive at presentation. Immunohistochemical stainings in tissue sections were positive for lysozyme. Amyloid was also observed in the colonic mucosa. The patient had a mutation in the lysozyme gene characterized by substitution of the amino acid at position 64 in the mature protein from tryptophan to arginine, previously described in only 1 French family with prominent nephropathy. It is interesting to note that her father had died many years before with an uncharacterized digestive amyloidosis. Our observation shows that a search for gastrointestinal amyloidosis is important, particularly when physicians are faced with congestive mucosa, unexplained abdominal hemorrhage, or abdominal symptoms. When gastrointestinal amyloidosis is diagnosed, it is important to determine with precision the nature of the amyloid fibril proteins, because various types of amyloidosis can involve the gastrointestinal tract.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/11. Primary systemic amyloidosis. early diagnosis and therapy can improve survival rates and quality of life.Primary systemic amyloidosis is a rare disease with protean manifestations. Presence of nephrotic syndrome in the absence of diabetes and hypertension, cardiomyopathy in the absence of ischemia, restrictive cardiac defect, demyelinating polyneuropathy, or unexplained hepatomegaly should alert the physician to the possibility of amyloidosis. Initial steps in the diagnostic evaluation of patients with suspected amyloidosis include serum and urine immunoelectrophoresis and immunofixation studies. Demonstration of amyloid material on tissue biopsy (e.g., subcutaneous fat) is required for diagnosis. Availability of effective treatments has improved the outlook of patients with primary systemic amyloidosis. early diagnosis is critical to optimizing the chances of effective therapy.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/11. hypothyroidism in association with systemic amyloidosis.BACKGROUND. Systemic amyloidosis leads to functional compromise of various organs through infiltration of these tissues by amyloid protein. The majority of affected patients develop infiltration of the thyroid gland; yet thyroid dysfunction rarely occurs. methods AND RESULTS. Described herein is a case of hypothyroidism occurring in a patient with amyloid goiter. An alternative explanation for her hypothyroidism could not be determined by histologic or serologic evaluation. Hormonal assays were consistent with progressive hypothyroidism in spite of oral and, finally, parenteral replacement therapy. A review of the literature describes other cases of thyroid dysfunction reported in patients with systemic amyloidosis. CONCLUSIONS. This case illustrates how amyloid infiltration may be a cause of hypothyroidism in patients with systemic amyloidosis. Therefore, all patients who develop a goiter, including those with systemic amyloidosis, must be screened for thyroid dysfunction. When a physician diagnoses the patient with hypothyroidism, that physician must be aware of potential pitfalls in the administration of thyroxine replacement as outlined below.- - - - - - - - - - ranking = 2keywords = physician (Clic here for more details about this article) |
8/11. amyloidosis complicating cystic fibrosis.Two patients with cystic fibrosis developed acute onset nephrotic syndrome and died within three months of presentation. Examination of renal biopsy specimens indicated amyloid. The onset of proteinuria or a fall in baseline renal function should alert the physician to this rare complication.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
9/11. Acute upper airway obstruction resulting from systemic diseases.Acute upper airway obstruction is usually associated with inflammatory processes such as epiglottitis, and with laryngeal trauma and laryngeal tumors. Not uncommonly, systemic diseases such as Wegener's granulomatosis and sarcoidosis may manifest initially as upper airway obstruction requiring intubation or tracheostomy. We describe our experience in the diagnosis and management of cases of airway obstruction due to previously undiagnosed systemic diseases. We believe that physicians should be familiar with the airway manifestations of these systemic diseases when treating patients with airway distress of apparently unknown cause.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
10/11. Cervical amyloidoma of C2. Case report and review of the literature.STUDY DESIGN: Second published report of a patient with amyloidoma of the upper cervical spine. OBJECTIVES: To describe a patient with rare radiculopathy to alert other physicians to consider amyloid tumor as a differential diagnosis of locally destructive spine lesions. SUMMARY OF BACKGROUND DATA: Localized amyloid tumor of the bone is a rare disease. Only seven cases of spine involvement have been reported. Appropriate tissue sampling is required to establish the diagnosis. Histopathologic examination shows pathognomonic apple-green birefringence under polarized light. When bone is involved with amyloid, it is most commonly associated with multiple myeloma or other plasma cell-dyscrasias. METHOD: This case was described, and pertinent literature was reviewed. RESULTS: The patient showed persistent neurologic improvement after transoral complete tumor removal, followed by a secondary posterior stabilization procedure using transarticular C1-C2 screws. CONCLUSIONS: Amyloidomas are benign lesions with no associated documented risk for the development of plasmocytoma-related diseases. The clinical and radiographic manifestations of this lesion are nonspecific. A cure is possible with complete resection of the tumor and no adjuvant management procedures.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
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