Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe the case of a 56-year-old man who developed acute hypertension leading to cardiac insufficiency, arrhythmia, severe heart failure and death. The autopsy revealed Sipple's syndrome (multiple endocrine neoplasia syndrome type IIa) and catecholamine-induced cardiomyopathy. This man had received a false diagnosis of primary hypertension 1 year before. The prime objective of this report is to call attention to the necessity of an in depth diagnosis of labile and paroxysmal hypertension. The clinical diagnostic features of phaeochromocytoma as well as the main therapeutic approaches suggested in the literature are commented on.
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PMID:Sipple's syndrome presenting acutely as severe heart failure. 1213 43

Essential hypertension is one of the most important risk factors for cardiovascular diseases. Its pathophysiological mechanism is unknown. Recent data suggests that deformability and aggregation of red blood cells may play an important role in the regulation of blood rheology in hypertension. Simultaneously there are reports suggesting that antihypertensive effects of angiotensin converting enzyme inhibitors (ACEI) could be counteracted by high doses of aspirin. We postulate that these effects could be related to the changes in blood rheology. Accordingly we designed a study to evaluate the effect of low or high dose of aspirin on deformability and aggregability of red blood cells from patients with essential hypertension. Deformability and aggregability of red blood cells were measured by laser diffractometer (Rheodyn SSD, Myrenne GmbH) and computerized automatic aggregometer (MA1 Myrenne GmbH, Germany), respectively. The effects of aspirin on deformability and aggregation of red blood cells were studied ex vivo in whole blood from three groups of patients with essential hypertension (group I: 10 patients receiving placebo, group II: 23 patients receiving 75 mg/day p.o. aspirin for 3 days, and group III: 23 patients receiving 300 mg/day p.o. aspirin for 3 days). Subjects in all groups received the same combination of antihypertensive agents consisting of: one of ACEI (enalapril or perindopril), one of beta-antagonists (metoprolol or bisoprolol), and diuretic agent (indapamid). In patients receiving high dose of aspirin (300 mg/day) we observed that erythrocyte aggregability was 25% higher than in the placebo group (MEA = 25.8 +/- 6 SD, vs MEA = 20.6 +/- 3 SD, p < 0.05). Aspirin had no effects on deformability of erythrocytes or on arterial blood pressure. High doses of aspirin or possibly also other nonsteroidal anti-inflammatory drugs (NSAID) in patients receiving antihypertensive therapy can directly affect rheological properties of the blood due to the activation of red blood cell aggregation. Increased aggregation of red blood cells during antihypertensive therapy may be an important indicator of the worsening of organ perfusion.
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PMID:[The effect of aspirin on rheological properties of erythrocytes in essential hypertension]. 1215 52

Classical primary hyperparathyroidism (PHPT) was a multisystem disorder with clear neurologic, psychiatric, gastrointestinal, and cardiovascular consequences. The nature and extent of involvement of these target organs in the modern presentation of the disease are controversial. Although hypertension has been associated with PHPT, it is not cured after parathyroidectomy, nor is it easier to control. Despite significant data on European patients, information on the incidence of cardiovascular abnormalities in American patients with mild disease are limited. Investigation is turning to more subtle abnormalities, such as vascular reactivity and endothelial function, where data are conflicting. Many patients complain of nonspecific neuropsychiatric symptoms. This has been a difficult area to study quantitatively. Classical neuromuscular disease is rare in mild PHPT, although weakness and easy fatigability remain common complaints. These nonspecific symptoms may or may not improve with surgery. While no clear causal association exists between sporadic PHPT and peptic ulcer disease, this is not the case in patients with multiple endocrine neoplasia type 1 (MEN1). Gastrinoma is more severe in those with coexisting PHPT, and Zollinger-Ellison Syndrome improves with treatment of PHPT. Further efforts are necessary to characterize the cardiovascular and neuropsychological profiles of mild PHPT and to determine the longitudinal course of such alterations. With available data suggesting that many asymptomatic patients with PHPT can be safely followed without parathyroidectomy, this information will be of key importance in the management of such individuals.
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PMID:Non-classical target organs in primary hyperparathyroidism. 1241 88

Laparoscopic adrenalectomy has become the standard treatment for benign adrenal tumors, providing minimal invasiveness and early recovery. In the case of pheochromocytomas, special attention should be paid perioperatively to prevent excessive hypertension or hypotension. The protocol should include sufficient preoperative medication with alpha 1 blockers, early ligation of the adrenal vein, and minimal handling of the tumor itself. A literature review of 227 laparoscopic adrenalectomies for pheochromocytomas revealed that the perioperative data, including the operative time, blood loss, and hemodynamic status, were similar or slightly better in the laparoscopic procedures as compared to the open procedures, although the convalescence period was significantly shorter in the laparoscopic surgery. The majority of surgeons prefer the transperitoneal approach for pheochromocytomas, although some authors use the retroperitoneal approach successfully. A comparison of the perioperative data from laparoscopic surgeries for pheochromocytomas versus those for other adrenal tumors showed that the former had slightly higher demands to complete the procedure safely. In the treatment of familial pheochromocytoma due to multiple endocrine neoplasia type 2 or von Hippel-Lindau disease, a cortical-sparing adrenalectomy can be safely performed laparoscopically. In conclusion, laparoscopic adrenalectomy is the standard for small pheochromocytomas, with a high success rate when the procedure is performed by experienced surgeons.
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PMID:Laparoscopic adrenalectomy for pheochromocytoma: a literature review. 1248 69

A 12-year-old boy presented with severe hypertension, congenital microcephaly, severe hearing loss, developmental delay, cryptorchidism, and bilateral pheochromocytomas, without the phenotypic features of multiple endocrine neoplasia type II syndromes (MEN-2). Sequence analysis of the polymerase chain reaction (PCR)-amplified gnomic DNA identified a missense mutation at nucleotide 451 of the von Hippel-Lindau (VHL) gene (A451G) that changes a codon for serine (AGT) to one for glycine (GGT) at amino acid position 80 (S80G). The sequence DNA analysis of the parents did not show a mutation in the VHL gene that was previously identified in their affected son. The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature. Knowledge that VHL mutation plays a critical role in sporadic pheochromocytoma should aid in the future diagnosis and treatment of this tumor. Genetic testing in known pheochromocytoma families is indicated to identify genetically abnormal subjects that carry the MEN-2, VHL, and glomus tumor gene mutations.
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PMID:Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. 1250 Feb 16

Phaeochromocytoma is a tumour of the adrenal medulla, which, although rare, is a major cause of correctable hypertension with a prevalence of 0.1-0.5% in the hypertensive population. Clinical symptoms include attacks of paroxysmal headache, sweating, palpitations, stress and a sense of imminent death. Often associated with the above is an increase in blood pressure. Despite the fact that the underlying genetic mechanisms of phaeochromocytoma have been well investigated, they are still incompletely understood. In approximately 80% of cases the tumour occurs sporadically, but it may occur in association with type 2 multiple endocrine neoplasia, type 1 neurofibromatosis or von Hippel-Lindau disease. Molecular evidence suggests that other genes such as SDHD or SDHB may control its development; the possibility of other putative phaeochromocytoma genes is currently being investigated.
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PMID:Clinical and genetic aspects of phaeochromocytoma. 1256 22

Pheochromocytoma is a rare tumor, but it represents a potentially curable form of hypertension. In patients with inherited pheochromocytoma, benign and bilateral tumors are more common. The diagnosis of pheochromocytoma rests in biochemical confirmation of catecholamine excess. Plasma-free metanephrine levels are arguably the most sensitive and specific test for the biochemical diagnosis of pheochromocytoma in high-risk patient populations. A timed 24-hour urine collection for total catecholamines and metabolic products (eg, vanillylmandelic acid and metanephrines) is the favored confirmatory test. Localization is most commonly accomplished with high-resolution computed tomography imaging, but magnetic resonance imaging can also be used. If both of these imaging modalities are nonlocalizing or equivocal, then radiolabeled meta-iodobenzylguanidine or somatostatin can be used to identify an adrenal or extra-adrenal tumor (paraganglioma). These imaging modalities can be used in the evaluation of patients with suspected or confirmed recurrent or metastatic disease. Systemic therapies for the treatment of patients with recurrent or metastatic disease have been disappointing. Radiation therapy is best applied for palliative relief of pain associated with bony metastases. In the absence of radiographic evidence for local tumor invasion, laparoscopic resection of small- to medium-sized (< 6 cm) pheochromocytomas is indicated. Abundant evidence indicates that this approach is safe and well tolerated and results in more rapid recovery and less long-term wound morbidity compared to open anterior or posterior adrenalectomy. Open anterior adrenalectomy is appropriate for patients with large or recurrent tumors, suspected or documented locoregional invasion, or for those patients in whom a laparoscopic approach is technically contraindicated. For selected patients with pheochromocytoma in the von Hipple-Lindau syndrome or multiple endocrine neoplasia type 2 setting in which the cumulative incidence of clinical bilateral tumors is high, a cortical-sparing approach may minimize the risk of Addisonian complications.
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PMID:Pheochromocytoma. 1294 13

Pheochromocytomas are neuroendocrine tumors that typically present with paroxysms of hypertension, but occasionally can lead to marked hemodynamic instability, left ventricular dysfunction, and cardiovascular collapse. Although pheochromocytoma in pregnancy is rare, factors specific to pregnancy can precipitate catecholamine crisis, making diagnosis and treatment challenging. We present a case of acute cardiovascular collapse with transient left ventricular dysfunction due to catecholamine crisis in a healthy young woman at term pregnancy. Further clinical and genetic investigation revealed pheochromocytoma as part of multiple endocrine neoplasia IIa (Sipple syndrome). A discussion of diagnosis and treatment strategies for pheochromocytoma in pregnancy and acute catecholamine crisis accompanies this report.
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PMID:Pheochromocytoma storm presenting as cardiovascular collapse at term pregnancy. 1558 Jan 62

Pheochromocytomas (pheo) cause the most dramatic, life-threatening crises in all of endocrinology. A proper screening for pheo must be performed in any patient who has: 1) episodic headaches, tachycardia, and diaphoresis; 2) family history of pheo or multiple endocrine neoplasia; 3) incidental suprarenal mass; 4) paroxysms of tachyarrhythmias or hypertension; 5) adverse cardiovascular responses to anesthetic agents, histamine, phenothiazine, tricyclic antidepressants, etc); and 6) spells occurring during exercise, straining, etc. The key to diagnosing pheo is to suspect it, then to confirm it. Early recognition of its presence is critical to avoiding significant morbidity and mortality. Once suspected, the diagnosis can be confirmed with biochemical testing in virtually all patients. The combination of resting plasma catecholamines > or =2000 pg/mL and urinary metanephrines > or =1.8 mg/24 h has a diagnostic accuracy of 98% in both sporadic and hereditary pheos. When available, measurement of plasma free metanephrines should be performed especially in hereditary pheos. Provocative (glucagon) and suppression tests (clonidine) may be necessary when baseline measurements are inconclusive. CT and MRI are equally sensitive for localization (98% and 100%, respectively), but have lower specificities (70% and 67%). MIBG is 100% specific, but less sensitive (78%). The availability of various medical (selective alpha-1- and beta-adrenergic receptor antagonists, calcium channel blockers) and surgical modalities have made successful management more promising than ever before.
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PMID:Pheochromocytoma: current perspectives in the pathogenesis, diagnosis, and management. 1576 46

A 22-year-old woman complained of paroxysmal face flushing, palpitation and hypertension. CT scan revealed 55 mm mass in the right adrenal gland. Hormonal examination showed highly elevated urinary catecholamines and their metabolites excretion. Histological examination of the removed right adrenal gland confirmed the diagnosis of pheochromocytoma. 4 years later we observed the recurrence of similar symptoms. After the hormonal examination and CT imaging left adrenalectomy was performed, because of the presence of 33 mm diameter tumor in the left adrenal gland. Young age of our patient and occurence of bilateral pheochromocytomas suggested multiple endocrine neoplasia type 2. DNA sequence analysis of peripheral white blood cells revealed that codon 609 in exon 10 of the RET gene was mutated from TGC to CGC. During the further follow up of this patient we found 5 mm mass in the left lobe of the thyroid. Result of cytological examination of this focal mass and elevated calcitonin level in the pentagastrin test suggested the diagnosis of medullary thyroid cancer which was later confirmed after total thyeoidectomy based on results of histopathology of tumor. No metastatic changes was found. DNA analysis of the somatic mutation of the RET protooncogene was useful for the early detection of medullary thyroid cancer in the case of the 30-year-old patient with MEN 2A.
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PMID:[Late onset of medullary thyroid carcinoma with bilateral adrenal pheochromocytomas in the case of patient with MEN 2]. 1577 Nov 39


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