Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of oral involvement of amyloid associated (AA) amyloidosis (secondary systemic amyloidosis) in a patient who is suffering from psoriatic arthritis and ankylosing spondylitis, is described. The patient was complaining of pain in the oral cavity (burning mouth), especially on the tongue, and difficulty in chewing and swallowing foods. Oral examination revealed a few papules on the dorsum of the tongue associated with xerostomia. In addition, two slightly painful, small ulcers, localized on the vestibule of the mouth were observed. Biopsy of the tongue demonstrated amyloid deposits.
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PMID:Oral involvement in a case of AA amyloidosis. 1462 95

Amyloidosis of the seminal vesicles is a common finding in autopsies, with increased incidence in older population. It is usually asymptomatic. We report a case of symptomatic localized amyloidosis of the seminal vesicles, with hemospermia and suprapubic pain. Diagnosis was achieved through ultrasound-guided transrectal biopsy. Systemic amyloidosis must be ruled out through proper evaluation. Seminal vesicle enlargement secondary to amyloid deposit may be misdiagnosed as carcinomatous invasion.
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PMID:[Localized amyloidosis of the seminal vesicles]. 1473 67

We investigated the clinical efficacy of direct hemoperfusion with a beta2-microglobulin (beta2-m) adsorption column for the treatment of patients with dialysis-related amyloidosis. A 2-year prospective controlled study was performed to compare the effects of passaging blood through a (beta2-m) adsorption column (Lixelle) before it is passaged through the dialysis polysulfone membrane on the severity of amyloidosis in these individuals. Patients (n = 22) whose blood went through the Lixelle column prior to dialysis had a higher beta2-m removal rate compared to an equal number of controls, and they showed earlier improvement in their symptoms which included impaired daily activities, joint stiffness, and pain. The appearance of additional bone cysts was prevented in pre-adsorbed patients but not in the controls. Thus, the Lixelle column is useful in preventing the progression of dialysis-related amyloidosis and in ameliorating or arresting the progression of the symptoms of this disorder.
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PMID:Arresting dialysis-related amyloidosis: a prospective multicenter controlled trial of direct hemoperfusion with a beta2-microglobulin adsorption column. 1508 99

We have previously reported that a beta2-microglobulin adsorption column for the treatment of dialysis-related amyloidosis decreased serum digoxin concentration in renal failure patients. Because the distribution volume of digoxin is high, it is uncertain whether the repetitive use of this column influences the pharmacokinetics of digoxin in renal failure patients. We have observed 3 renal failure patients whose trough serum digoxin concentrations were significantly reduced by the repetitive use of tandem beta2-microglobulin adsorption columns for treatment of dialysis-related amyloidosis. These patients experienced symptomatic elevation of their heart rates in parallel with a significant reduction in serum digoxin concentrations. Termination of the use of the adsorption column improved the symptoms in 1 patient; however, severe arthritic pain caused by amyloidosis relapsed. Dosage of digoxin was increased in 2 other patients with continuous treatment by the column. Their digoxin concentrations increased, and their heart rates decreased without any deterioration of joint pain. We have demonstrated that the repetitive use of the beta2-microglobulin adsorption column in tandem with standard hemodialysis actually decreases trough digoxin concentration in renal failure patients. Careful monitoring and alteration of digoxin dosage regimens are needed under these circumstances.
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PMID:Beta2-microglobulin adsorption column reduces digoxin trough level during hemodialysis: three case reports. 1525 76

We report a case concerning a 49-year-old female patient with thoracic pain. X-rays showed a single osteolytic lesion on the right seventh rib. The excision of the rib disclosed a plasmocytic plasmocytoma with extensive amyloidosis. Serum and urine protein electrophoresis were both negative for monoclonal gammopathy. Bone marrow biopsy showed that 80% of the marrow had been replaced by plasma cells. A diagnosis of nonsecretory multiple myeloma was made. Immunohistochemistry revealed amyloid light (AL) amyloidosis of kappa-light chain origin. The relationship between nonsecretory multiple myeloma and amyloidosis is discussed.
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PMID:Nonsecretory multiple myeloma with amyloidosis. A case report and review of the literature. 1551 73

Familial mediterranean fever (FMF) is an hereditary disease transmitted in an autosomal recessive way and characterized by recurrent and brief episodes of fever and pain secondary to serositis. The pain is usually located in abdomen simulating an acute abdomen, and in thorax in the form of pleuritic pain. The most severe complication of the FMF is the development of amyloidosis being the main cause of death. This illness affects an specific ethnic group of the mediterranean area, but the prevalence in our area is low. We present the case of a 30 years old man with recurrent thoracic and abdominal pain, whose final diagnostic was FMF. Insisting on the difficulty that it was recognize this proper illness.
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PMID:[Fever and abdominal pain. A case of familial mediterranean fever]. 1562 54

Familial Mediterranean Fever (FMF), also known as paroxysmal polyserositis, is an autosomal recessive disease affecting mainly Mediterranean populations (Jews, Armenians, Arabs, Turks). It is characterised by recurrent crises of fever and serosal inflammation, leading to abdominal, thoracic or articular pain. Erysipela-like erythema affecting mainly feet and legs and effort-induced myalgia are less frequently encountered symptoms. The major complication of FMF is the development of renal amyloidosis. Standard laboratory tests of FMF patients are non-informative, except for the high sedimentation rate and white blood cell count, but during and immediately after crises, diminished albumin concentrations and elevated fibrinogen, C-reactive protein, beta2 and alpha2 M globulins, haptoglobin and lipoprotein concentrations are noted. Studies have measured immunoglobulin (Ig) levels in the sera of FMF patients and found elevated levels of IgA, IgM, IgG, and IgD in 23%, 13%, 17% and 13%, respectively. FMF crises are characterised by a massive influx of polymorphonuclear leukocytes into the inflamed regions. Moreover, the peritoneal fluid of FMF patients contains abnormally low levels of the inhibitor of complement fragment C5a and interleukin 8. Failure to suppress inflammatory response to C5a may explain the typical inflammatory FMF crises. The MEFV (for MEditerranean FeVer) gene responsible for the disease has been identified on 16p13.3. It is composed of 10 exons and spans approximately 14 Kb of genomic DNA. More than 35 mutations have so far been identified. The most frequent are M694V, M694I, M680I, V726A and E148Q. The M694V mutation is the most frequent mutation in the various ethnic groups considered, although its frequency varies from group to group. The V726A mutation is observed mainly among Ashkenazi and Iraqi Jews, Druzes and Armenians, and the M680I among Armenians and Turks. M694I and A744S seem specific to Arab populations, and R761H is frequently found in Lebanese FMF patients. The M694V mutation is often correlated with severe phenotypes, mainly in the homozygous state. It has been specifically correlated with arthritis, pleuritis and especially amyloidosis. Patients with other mutations in the 694 and 680 codons can also have severe phenotypes. The V726A mutation, although identified in FMF patients with a relatively mild phenotype, has also been detected in patients with renal amyloidosis. E148Q is often associated with a mild phenotype, and whether it is even a polymorphism has been questioned. The MEFV gene codes for a protein that was respectively called pyrin and marenostrin by the French and international consortia that simultaneously identified the gene. Its function is still not determined, but it was recently colocalised with microtubules and actin filaments in the cytoplasm. It contains a death domain called PYD (Pyrin Domain), usually associated with proteins involved in apoptosis. Some genes have been tested to assess their possible modifying effects on clinical features of FMF. The alpha/alpha genotype of the serum amyloid A or SAA1 gene is associated with an increased risk of amyloidosis in FMF patients, especially in patients homozygous for M694V, whereas the MICA (Major Histocompatibility Complex, MHC class-I-chain-related type A) gene seems to have an effect on disease course but not its clinical manifestations. The most effective treatment for FMF patients is colchicine, which should be taken regularly on a life-long basis. It decreases the frequency and severity of crises and prevents renal amyloidosis.
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PMID:[Familial Mediterranean Fever (FMF): from diagnosis to treatment]. 1574 78

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominant inherited condition of periodic fever and pain. TRAPS is caused by mutations of the TNFRSF1A gene localized at 12p13. The gene encodes extracellular region of the p55 TNF-alpha receptor, resulting in impaired cleavage and down-regulation of the membrane expressed form of the receptor, a diminished shedding of potentially antagonistic soluble form of the receptor and, as a consequence, an unbalanced TNF-alpha action. Most affected patients are from northern Europe. Fever, sterile peritonitis, pleural pain, arthralgia, myalgia, skin rash, and/or conjunctivitis occur during the syndrome episodes; some patients also develop systemic amyloidosis, with some differences among patients. An acute-phase response occurs during the episodes. We describe a case of a 23-year-old Moldavian woman, living in Italy presenting recurrent fever episodes with abdominal pain and skin rash. A biopsy showed small vessel vasculitis. The genetic analysis showed a TNFRSF1A gene (R92Q) mutation. In this paper we report also a literature review on this rare disease.
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PMID:[TRAPS syndrome, a rare cause of fever of unknown origin: case report and review of the literature]. 1585 96

Myeloma is a disease of the bone marrow in which there is malignant proliferation of plasma cells. Myeloma is usually associated with the accumulation of a monoclonal immunoglobulin or light chains in plasma and subsequently an increase in light chains in the urine (Bence-Jones proteins). Renal failure can occur and bone destruction in the axial skeleton may ensue with pain and fractures. Amyloidosis associated with multiple myeloma is a relatively common finding. The most frequently reported oral sign of amyloidosis is macroglossia. There are numerous cases in the literature of amyloid deposition in tongues related to multiple myeloma. However, none of these cases describe amyloid deposition surrounding arteries in the oral cavity. We therefore report a case of an innocuous lower labial swelling, which subsequently led to the diagnosis of amyloid deposition surrounding an artery, the cause of which was later shown to be multiple myeloma.
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PMID:Low grade multiple myeloma that presented as a labial swelling -- a case report. 1639 38

Patients, like those with ESRD, who have lost the ability to filter excess proteins from their bodies are at risk to develop beta-2-microglobin amyloidosis, also known as dialysis-related amyloidosis (DRA). When the kidneys do not work efficiently, a protein called beta-2-microglobulin can build up in the blood. Eventually, these molecules can form large deposits and potentially damage surrounding tissues. Currently, dialyzer membranes do not effectively remove these large molecules and, as the blood levels become elevated, deposits begin forming in bone, joints, and tendons resulting in pain and/or stiffness. Unfortunately, there is no known cure for DRA, although attempts are being made to develop dialyzer membranes that can more efficiently remove beta-2-microglobulin from the blood. Implications for practice include early diagnosis, patient teaching, optimal pain management and fall risk management.
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PMID:Amyloidosis and its impact on patients with ESRD. 1653 26


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