Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 25-year-old patient presented with fever over a period of more than three months, night sweats, fatigue and a weight loss of more than 10 kg. A splenomegaly and an enlargement of cervical, thoracic and abdominal lymph nodes were found. The suspected malignant hematologic disorder could not be confirmed. Instead, epithelioid noncaseating granulomas in the bone marrow and a cervical lymph node as well as an elevated serum ACE and a lymphocytic alveolitis were found. These findings led us to the conclusion that the patient was suffering from sarcoidosis. Treatment with corticosteroids resulted in complete regression of all symptoms, including the splenomegaly and the enlargement of the lymph nodes. Sarcoidosis is an important consideration in differential diagnosis of fever of unknown origin, even in the absence of pathological changes on X-ray films of the chest.
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PMID:[Fever of unknown origin]. 763 Nov

A 24 year old patient with epigastric pain, polyuria, polydipsia and hypercalcemia was admitted to the hospital. Besides the frequent causes of hypercalcemia such as primary hyperparathyroidism and malignancy-related hypercalcemia we had to consider sarcoidosis because of massive splenomegaly. The interstitial lung disease shown on x-ray films of the chest, the epithelioid granulomas in lung tissue and the increased ACE confirmed the diagnosis of sarcoidosis. Hypercalcemia is found in less than 5% of all cases with sarcoidosis. After treatment with steroids, diphosphonates and diuretics all symptoms and the hypercalcemia improved.
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PMID:[Polyuria, polydipsia]. 780 Oct 19

A 64-year-old male complained of weight loss and slight fever. Bilateral hilar lymphadenopathy and hepato-splenomegaly were observed. Serum ACE level was high, and liver function was impaired. Laparoscopy demonstrated small white nodules on the liver surface. A definite diagnosis of sarcoidosis was made by histological study of the specimen by liver biopsy and noncaseating epithelioid cell granulomas composed of giant cells and epithelioid cells were revealed. Various pancreatic enzymes were increased on admission, suggesting pancreatic impairment due to sarcoidosis. Corticosteroid therapy improved liver and pancreatic functions and decreased splenomegaly. He has been followed up for 4 years and 5 months.
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PMID:Sarcoidosis accompanied by pancreatic impairment. 849 38

Sarcoidosis is a granulomatous disease of unknown origin characterized by the trend to spontaneous remission in the great number of the patients. Some patients require treatment with corticosteroids, which have significant toxicity. The aim of this study was to assess the prognostic role of many different parameters in the patients with sarcoidosis. 162 sarcoidosis patients were introduced to prospective study: 22 patients were treated because of deterioration in lung function or serious ocular disease and 140 were observed without therapy for two years. We assessed the age, sex, symptoms, serum activity of angiotensin converting enzyme (SACE), hypercalcaemia, hypercalciuria, splenomegaly and HRCT findings at the time of diagnosis. We analyzed the frequency of spontaneous remission of sarcoidosis in the untreated patients. We investigated correlation between these parameters and remission. Statistical comparisons were made with chi-square test. We also applied the k nearest neighbor (k-NN) rule and the leave one out method adopted from the statistical pattern recognition theory. From many different parameters only acute symptoms (erythema nodosum, fever, arthritis) and serum activity of ACE might be helpful in predicting prognosis in the patients with stage I of disease. The patient's age at onset less than 36 years, the appearance of erythema nodosum and ground-glass opacities on HRCT scans portend an excellent prognosis in the patients with stage II of disease.
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PMID:[Prognostic value of some clinical, radiological, laboratory and functional parameters in sarcoidosis]. 1288 67

We describe the case of a 45-year-old male smoker who presented with an acute anterior wall myocardial infarction and a platelet count on admission of 1030000/mm3. Emergent coronary angiography revealead left anterior wall akinesia caused by a spontaneously resolved thrombosis of the left anterior descending artery with residual stenosis. Primary percutaneous coronary angioplasty and stenting were performed. Postangioplasty course was uneventful. He was diagnosed with essential thrombocythemia based on the findings of marked thrombocytosis of 1,030,000/mm3, splenomegaly and numerous clumping giant megakaryocytes on bone marrow biopsy. In addition to standard therapy with aspirin, heparin, betablocking agent, ACE-inhibitor and statine he received additional anti-platelet therapy with Clopidogrel. Cytoreductive therapy was not necessary.
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PMID:[Exercise-induced left arm pain and thrombocytosis]. 1588 26

Sarcoidosis is a granulomatous disease of unknown origin, with pulmonary findings in more than 90% of patients. Extrapulmonary involvement is common and all organs can be involved (especially lymph nodes, eyes, joints, central nervous system) but it is rare to find an isolated extrapulmonary disease (less than 10% of patients). Granulomatous inflammation of the spleen and the liver is common in patients with systemic sarcoidosis, while hepatosplenic enlargement is unusual and splenic involvement rare. We report two cases of systemic sarcoidosis, that onset with splenic and hepatosplenic disease, and one case with splenic sarcoidosis without pulmonary involvement. In the first case a 53-year-old woman with mild abdominal pain underwent sonography and CT, which revealed one hypoechoic/hypodense splenic lesion. Laboratory tests were normal. In order to exclude a lymphoma, splenectomy was performed: histology revealed a sarcoid granuloma. After surgery the patient was asymptomatic and now, after two years, disease is silent. The second case is a 66-year-old woman with a recent weight loss (8 kg in two months) and alterated liver function tests (AST 61 U/l, ALT 72 U/l, Alkaline phosphatase 748 U/l, g-GT 381 U/l). Since she had a familiar history of colon cancer, abdominal US scan, abdominal CT scan and MRI were performed and showed inter-aorto-caval lymphadenopathies and discreet multiple bilobar hepatic and splenic substitutive lesions, with no signs of primary tumor. Upper and lower GI endoscopy, full gynecological workup, complete set of tumor markers, bone marrow biopsy were performed. All resulted negative for neoplasia. Small pulmonary infiltrations were observed on chest-CT scan but cytology on BAL was normal. Infections were also excluded. An exploratory laparotomy showed whitish peritoneal, hepatic and splenic nodules. The histological exam revealed chronic granulomatous lesions typical for sarcoidosis. During a two-year follow-up after the splenectomy the patient feels well without any treatment. The third patient is a 32-year-old woman with mild epigastric pain after meals. Neck-thoracic CT, bone scintigraphy and upper GI endoscopy were negative. Abdominal US and MR showed splenomegaly with multiple splenic lesions. Splenectomy was performed and histological exam showed chronic granulomatous lesions typical for sarcoidosis. Further laboratory tests were normal, except for ACE (66 UI/l). After the surgery ACE became normal and now, three years later, the patient is still asymptomatic. We conclude that hepatosplenic involvement is less rare than it is thought. It is often oligosymptomatic or accompanied with unspecific manifestations and laboratory abnormalities. The diagnosis could be difficult; in fact typical laboratory findings of sarcoidosis such as ACE, lysozyme, calcium, were not diagnostic. Ultrasonography and CT were important but the diagnosis was established only with the histological examination of suspected lesions. This latter required to differentiate liver and/or spleen sarcoidosis from tuberculosis and other infections, primary biliary cirrhosis, metastasis or malignant lymphoma.
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PMID:Atypical sarcoidosis: case reports and review of the literature. 2138 7

Gaucher disease (GD) is a lysosomal storage disorder characterized by anemia and thrombocytopenia, hepatosplenomegaly, and skeletal involvement. The management of Gaucher disease was improved by the development of enzyme replacement therapy (ERT). However, the bone response to ERT is generally slower compared to other clinical manifestations. Some have recommended the early use of ERT to prevent the development of severe skeletal complications. Because we have access to over 30 untreated patients in Ontario, we questioned the extent to which complications progress in severity over a long period of time. We examined retrospectively the natural history of GD and the extent of skeletal manifestations in 22 untreated type 1 GD adult patients (mean age, 49+/-3.3; range, 20-81 years). The patients were followed for a median of 9.5 years (range, 3-16 years). Hemoglobin (Hb) concentration did not significantly change over time (mean baseline concentration of 12.8+/-0.27 g/dL vs. mean recent concentration of 12.6+/-0.37 g/dL, p=0.65). Mean platelet count also remained relatively stable over time (mean baseline count of 138+/-13x10(9)/L vs. mean recent count of 138.5+/-18x10(9)/L, p=0.98). Mean ferritin and ACE concentrations were elevated and were stable over time. Liver volumes decreased over time (mean baseline liver volume of 1.2xnormal (N) vs. mean recent volume of 1.06xN, p=0.27) and 6 of 22 (27%) patients had moderate hepatomegaly (liver volume, 1.25-2.5xN). Spleen volumes remained stable over time (mean baseline spleen volume of 6.6xN vs. mean recent volume of 5.2xN, p=0.5). None of the changes was statistically significant. Four of 20 (20%) patients had moderate splenomegaly (spleen volume, 5-15xN), 2 of 20 (10%) had marked splenomegaly (spleen volume, >or=15xN), and 2 of 22 (9%) had had splenectomy. The most common skeletal manifestations were infiltration of the bone marrow in 16 of 22 (73%) patients followed by osteopenia in 15 of 22 (68%), Erlenmeyer flask deformity in 13 of 22 (59%), and infarctions in 6 of 22 (27%) patients. We observed that bone disease remained relatively stable over time in most patients, although three patients developed new infarcts over time, one developed an avascular necrosis (AVN), and four had an increase in the degree of osteopenia. Although GD and its skeletal complications progress in severity in some patients, our results suggest that GD complications, including bony disease, may stabilize over time. Therefore, early use of ERT may not be necessary in all type 1 GD patients.
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PMID:The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations. 1979 65

Gaucher disease (GD) is an inherited enzyme deficiency characterised by progressive cytopenias, hepatosplenomegaly and destructive bone disease. It is diagnosed by demonstration of beta glucosidase deficiency but may be suspected in presence of abnormal storage cells on tissue biopsy. Specific treatment is available in the form of enzyme replacement (ERT) and is effective in reversing many disease features. Delayed treatment has been associated with increased disease complications. This retrospective review of a single centre cohort of 86 patients was undertaken to ascertain if the diagnostic journey had improved since the introduction of ERT and commissioning of services. Fifty-six percent of patients presented primarily with features related to thrombocytopenia or splenomegaly with a median time from symptom onset to diagnosis of 2years (range 0.5-26years), 19% experiencing delays of 5 or more years. Seventy-five percent of patients were diagnosed by haematologists, 68% following an abnormal bone marrow biopsy. Raised serum ACE levels, low HDL cholesterol and raised ferritin were identified as prevalent laboratory abnormalities at the time of diagnosis. These features, coupled with the relative preservation of haemoglobin and white cell counts compared to the platelet count, help identify patients presenting to haematologists with a possible diagnosis of GD earlier in the diagnostic pathway.
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PMID:Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists. 2321 28

Gaucher's disease is not commonly considered in the differential diagnosis of adult patients with hepatosplenomegaly and increased serum ACE. A 19-year-old girl presented with recurrent epigastric and left hypochondrial pain over a period of 9 years, associated with episodes of nausea and diarrhoea. She was extensively investigated and found to have splenomegaly and raised serum ACE. A screen for haematological disorders was negative. She reported an insect bite during an overseas holiday preceding her symptoms. She was therefore also screened for infectious causes of hepatosplenomegaly but without success. Later on in life, she reported joint pain and discomfort. Sarcoidosis was thought to be the putative cause on more than one occasion. However, the presence of splenomegaly and her relatively young age, led the rheumatologist to the correct diagnosis.
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PMID:An ACE diagnosis. 2341 80

A 13-year-old boy, known case renal stone disease came with the complaints of abdominal pain along with low grade fever. On examination, hepatosplenomegaly was noted while his lab reports showed a low hemoglobulin with a raised ESR. His blood and urine cultures showed no growth. Viral markers, autoimmune profile, C and p ANCA were all negative apart from a raised serum IgG level. Ultrasound abdomen showed a hyperechoic liver with an enlarged spleen along with splenic varices and minimum ascites. Ultrasound hepatic doppler was normal. Serum AFP levels were normal while workup for Wilson's disease was negative. Fibroscan showed F4 fibosis. CT scan abdomen showed an enlarged left lobe of the liver along with an enlarged spleen. His EGD revealed varices. So liver biopsy was done that was suggestive of chronic granulomatous disease with ZN stain testing negative for TB.PPD, urine for AFB were both negative. Serum ACE levels were raised. He started ATT therapy but his condition did not improve. So, on the suspicion of hepatic sarcoidosis, he started on steroids and had a drastic improvement in his condition.
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PMID:Hepatic Sarcodosis presenting as portal hypertension in a young boy. 2956 70


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