Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have identified partial trisomy 1q in 2 patients with different hematologic disorders. The first patient was a 55-year-old female with myelosclerosis and myeloid metaplasia diagnosed at age 38 years presenting with anemia, fatigue, bruising, fever, and splenomegaly. At age 56, she had 50--95% myeloblast cells and 95--100 nucleated RBC precursors per 100 WBC. Chromosome analysis of unstimulated leukocytes with Q, G, and C banding showed 46,XX,-6,+t(1;6) (q25;p22) in all metaphase cells. In vitro incorporation of Fe55 was demonstrated 90% of metaphases by autoradiography. The second patient, a 49-year-old male, was diagnosed as having polycythemia vera at age 30 during a regular checkup. He since developed hepatosplenomegaly. Chromosome analysis from a direct bone marrow preparation at age 44 and 45 showed grossly normal karyotypes. At age 49, his marrow by Q and G banding showed almost 100% of cells with 46,XY,-13,+t(1;13) (q12;p12). Eleven cases of trisomy of 1q have been reported in various hematologic disorders. It is apparent that partial trisomy 1q represents another nonrandom chromosomal abnormality, in addition to the most common nonrandom chromosomal aberrations, such as the Philadelphia chromosome, trisomy 8, trisomy 9, and monosomy 7 in hematologic disorders.
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PMID:Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera. 60 27

The data of 140 patients with polycythemia vera during the period 1955--1975 were analyzed with regard to clinical signs and prognosis. The average age was 53,4 years. The sex ratio was 1.9:1 in favor of men. The most frequent symptoms were headache and vertigo. In more than half of the cases hepatosplenomegaly and hypertension were found. Besides typical changes in the blood count with elevated erythrocytes, hemoglobin, hematocrit, leukocytes and thrombocytes, increased levels of alkaline leukocyte phosphatase and uric acid were found. As to therapy, after 32P-medication the survival was two years longer than after phlebotomy. In 9 patients osteomyelofibrosis developed, and in 7 cases chronic myeloic leukemia. The mean age of death was 61 years.
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PMID:[Polycythemia vera, clinical aspects and disease course]. 64 97

A case of polycythemia vera with an inhibitor against factor XII was reported. A 60-year-old female was admitted to Hokkaido University School Hospital because of erythrocytosis and hepatosplenomegaly. The hemoglobin was 22.5 g/dl and white cell count was 9,500/microliters without immature cells. The platelet count was 484,000/microliters. Bone marrow specimens showed marked hypercellularity. Philadelphia chromosome was not found on chromosome analysis. She was diagnosed as polycythemia vera according to the criteria of polycythemia Vera Study Group. Activity of factor XII was found to be decreased on the initial examination, but she had no personal and familial history of bleeding. In order to clarify the cause of decreased activity of factor XII, her plasma was mixed with normal plasma, and then examined PTT using factor XII deficient plasma. Her plasma mixed with equivalent normal plasma did not show the correction of prolonged PTT. It was suggested that an inhibitor of her plasma was included in the IgG fraction using gel chromatography. The patient was treated with phlebotomy and administration of N4-palmitoyl (1- -D-arabinofurasyl) cytosine (derivative of cytosine arabinoside; PLAC) 200 mg/day and Busulfan (1 mg/day). Factor XII was not corrected by phlebotomy, but corrected gradually by administration of PLAC and Busulfan.
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PMID:[Polycythemia vera with an inhibitor against factor XII]. 260 Oct 45

This is a report of a long term prospective study of 13 seriously ill patients with Budd-Chiari syndrome as a result of occlusion of the hepatic veins who were treated by side to side portacaval shunt from four to 78 weeks after the onset of symptoms and who were under observation for three to 16 years. The patient population was young, ranging in age from 19 to 45 years; seven were men and six were women. The presumed cause was the use of oral contraceptives in three, polycythemia rubra vera in two, Behcet disease in one patient and unknown in seven patients. All of the 13 patients had abdominal pain, marked ascites, hepatosplenomegaly, wasting and disturbed liver function. Diagnosis was based on the symptoms and signs: angiographic demonstration of hepatic vein occlusion and a patent inferior vena cava; pressure measurements that showed an inferior vena caval pressure that was normal or within the usual range for patients with massive ascites and an elevated wedged hepatic vein pressure that was much higher than the inferior vena caval pressure, and the results of biopsy of the liver showing centrilobular congestion and necrosis. Side to side portacaval shunt was very effective in decompressing the liver, reducing the mean corrected portal pressure from 240 millimeters of saline solution before to 7 millimeters of saline solution after the shunt. Operative survival rate was 92 per cent, and the long term survival rate for three to 16 years is 85 per cent. All of the survivors are free of ascites without requiring diuretic therapy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Long term results of treatment of Budd-Chiari syndrome by side to side portacaval shunt. 290 30

A case of plasma cell dyscrasia with polyneuropathy and endocrine disorder is reported. Clinically, polycythemia vera, gynecomastia, pigmentation of the skin, hepatosplenomegaly, renal enlargement and severe polyneuropathy in the lower extremities were recognized. The peculiarity of this case was polycythemia vera that had been present for several years before manifestation of the clinical symptoms. Microscopically, retroperitoneal lymph nodes showed angio-follicular lymphoid hyperplasia and plasma cell infiltration in the interfollicular region. By means of the avidin-biotin-peroxidase complex method, plasma cells were positive for lambda light chain, IgA and IgG. Severe segmental demyelination and slight axonal atrophy were found in a sural nerve biopsy.
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PMID:Plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes: the POEMS syndrome, associated with preceding polycythemia vera. A case report and review of the literature. 306 44

17 cases of Budd-Chiari syndrome with polycythemia diagnosed by the authors are reviewed, and the primary or secondary etiology of this disorder in these cases, in the other 36 reported in the literature, and in the 8 users of oral contraceptives who have suffered the combined syndrome since 1966, is discussed. The Budd-Chiari syndrome is a primitive thrombosis of all or part of the subhepatic veins, and among 350 known cases, only 36 have also had polycythemia. Contrary to the mostly older patients with polycythemia vera, these 17 cases averaged 36.8 years, and were more often female (10 of 17), 4 had gynecologic antecedents 1 (oral contraceptives, 1 pregnancy, 1 abortion, 1 myomectomy). The clinical findings commonly seen were ascites (82%), hepatosplenomegaly (94%), bromosulphthalein retention (81%), low serum lipids (59%), high serum albumin (81%), low serum iron (75%), and other extensive thrombosis. 2 of these patients died within 2 months, 5 died within 2 years, and 5 are still living. The patient who took oral contraceptives had had 3 induced abortions and 1 pregnancy; took Ovariostat for 5 days, 1 month after first contracting progressive jaundice; was hospitalized 9 months later; and was successfully treated. The authors commented that polycythemia was documented in all cases of Budd-Chiari syndrome in pill users in which tests were made. Among these 17 cases, 2 had true polycythemia, and 8 has secondary polycythemia.
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PMID:[Polycythemia and Budd-Chiari syndrome. Apropos of 17 cases]. 515 23

Essential thrombocythemia (ET) is traditionally considered to be a clonal disorder. No specific karyotypic abnormalities have been described, but the demonstration of clonality using X-chromosome inactivation patterns (XCIPs) has been used to differentiate ET from a non-clonal reactive thrombocytosis. However, these assays may be difficult to interpret, and contradictory results have been reported. We have studied 46 females with a diagnosis of ET according to the Polycythemia Vera Study Group (PVSG) criteria. XCIP results in 23 patients (50%) were uninterpretable due to either constitutive or possible acquired age-related skewing. Monoclonal myelopoiesis could be definitively shown in only 10 patients. Thirteen patients had polyclonal myelopoiesis, and in 8, it was possible to exclude clonal restriction to the megakaryocytic lineage. Furthermore, there was no evidence of clonal progenitors in purified CD34(+)CD33(-) and CD34(+)CD33(+) subpopulations from bone marrow of 2 of these 13 patients. There was no difference between patients with monoclonal and polyclonal myelopoiesis with respect to age or platelet count at diagnosis, duration of follow-up, incidence of hepatosplenomegaly, or hemorrhagic complications. However, polyclonal patients were less likely to have experienced thrombotic events (P =.039). These results suggest that ET is a heterogeneous disorder, and the clinical significance of clonality status warrants investigation in a larger study.
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PMID:A large proportion of patients with a diagnosis of essential thrombocythemia do not have a clonal disorder and may be at lower risk of thrombotic complications. 988 2

In this paper we describe a patient with polycythemia vera (PV), who presented with hypercalcemia due to a parathyroid adenoma. In November 1999, the patient was admitted to our hospital with meteorism and constipation. Her physical examination revealed plethora and hepatosplenomegaly. Laboratory data revealed hyperparathyroidism in addition to PV: Rbc 8 x 10(6)/mm3, Hct 63.7%, serum calcium 13.4 mg/dl, serum phosphorus 1.2 mg/dl, albumin 4.25 mg/dl, and alkaline phophatase activity 433 U/l. Intact Parathyroid Hormone level (iPTH) was 376 pg/ml (n.v.12-72 pg/ml). Twenty-four hour urinary calcium excretion was higher than normal (900 mg). A parathyroid adenoma was detected with Tc-99m sesta-MIBI scanning under the left lobe of the thyroid gland and an ultrasonographic examination of the neck also supported the diagnosis. The patient was recommended for surgery. The histopathological examination confirmed the diagnosis. Postoperatively, iPTH dropped to 53.4 pg/ml at the 15 th minute and to 33.5 pg/ml at the first hour. The calcium level was 7.5 mg/dl one hour after the operation. Five days later, Hct was 40.8%. This case represents a rare association between PV and primary hyperparathyroidism, and may provide evidence for a causal link between PTH and polycythemia vera in our patient. In conclusion, this case indicates that the differential diagnosis of hypercalcemia and polycythemia vera should also include the possibility of a parathyroid tumor in addition to malignancy.
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PMID:An unusual cause of hypercalcemia in polycythemia vera: parathyroid adenoma. 1210 88

Chronic Neutrophilic Leukemia (CNL) is a rare myeloproliferative disorder characterized by a persistent increase of mature peripheral neutrophils, myeloid hyperplasia in bone marrow, hepatosplenomegaly, elevated neutrophil alkaline phosphatase (NAP) and absence of Philadelphia chromosome, with no evidence of infection or malignancy sufficient to mimic a leukemoid reaction. CNL has been associated with multiple myelomas in many reported cases, but transition of Polycythemia Vera (PV) to CNL is very rare. An 81-year-old female patient, who had undergone intermittent phlebotomy following the diagnosis of PV 8 years previously, was admitted to our hospital due to lower back pain. A physical examination showed a splenomegaly 2 cm below the costal margin, with tenderness of the thoracic and lumbar spine area. A peripheral blood examination showed a WBC count of 91,800/microL (neutrophil 88%) with a rare immature form, hemoglobin of 9.1 g/dL and a platelet count of 1,661,000/microL. Her NAP score was 58. The bone marrow examination showed 95% cellularity, with an M:E ratio of 10:1, increased megakaryocytes with normal morphology and the absence of myelofibrosis. Chromosomal studies showed no Philadelphia chromosome. A radiological examination showed compression fractures of the vertebrae and spinal cord compression. No underlying disease causing a leukemoid reaction was detected. With iron replacement, the hemoglobin level failed to increase over 12 g/dL. Therefore, it was concluded to be a transition of PV to CNL. After administration of hydroxyurea and vertebroplasty, the symptom improved and the WBC count was sustained below 40,000/microL.
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PMID:A case of transition of polycythemia vera to chronic neutrophilic leukemia. 1568 21

Patients with primary myelofibrosis (PMF) or post-polycythemia vera or post-essential thrombocythemia myelofibrosis (post-PV/ET MF) have limited therapeutic options. The farnesyltransferase-inhibitor tipifarnib inhibits in vitro proliferation of myeloid progenitors from such patients. In the current phase II clinical trial, single-agent oral tipifarnib (300 mg twice daily x 21 of 28 days) was given to 34 symptomatic patients with either PMF (n=28) or post-PV/ET MF (n=6). Median time to discontinuation of protocol therapy was 4.6 months; reasons for early termination (n=19; 56%) included disease progression (21%) and adverse drug effects (18%). Toxicities (>/=grade 3) included myelosuppression (n=16), neuropathy (n=2), fatigue (n=1), rash (n=1) and hyponatremia (n=1). Response rate was 33% for hepatosplenomegaly and 38% for transfusion-requiring anemia. No favorable changes occurred in bone marrow fibrosis, angiogenesis or cytogenetic status. Pre- and post-treatment patient sample analysis for in vitro myeloid colony growth revealed substantial reduction in the latter. Clinical response did not correlate with either degree of colony growth, measurable decrease in quantitative JAK2(V617F) levels or tipifarnib IC(50) values (median 11.8 nM) seen in pretreatment samples. The current study indicates both in vitro and in vivo tipifarnib activity in PMF and post-PV/ET MF.
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PMID:A phase II trial of tipifarnib in myelofibrosis: primary, post-polycythemia vera and post-essential thrombocythemia. 1758 8


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