Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pheochromocytoma (Pheo) is a rare cause of hypertension (HTN). Classically, a triad of symptoms includes sweating, palpitations, and headache. HTN is often present and labile. Although a triad of symptoms is cited as the most frequent presenting complaints, our clinical experience leads us to question how often these are present. Thirty-two patients with histologically proven pheo or paraganglionoma were evaluated. Around 84.4% patients had adrenal pheos and 15.6% had extra-adrenal pheos. Two patients had bilateral adrenal tumors, two had a history of prior pheos, and four had a family history of pheo. There were 19 (59.4%) female and 13 (40.6%) male patients. Six (18.7%) patients were black and 26 (81.3%) were white. The mean age at presentation was 43.2+/-13.9 years. Two patients were known to have neurofibromatosis type 1, two had von Hippel-Lindau disease, one had multiple endocrine neoplasia 2A, and one PGL/SDHD genetic mutation. Twenty-six patients had sporadic tumors or had not had genetic testing. Biochemical diagnosis was confirmed with 24-h urine measurements. Urine catecholamine measurements were elevated at least 2 to 4 times above normal levels. Mean SBP readings at presentation were 128+/-19 mmHg. Mean DBP readings were 81+/-13 mmHg. Around 65.6% patients were hypertensive at presentation. Fifty percent of the patients had palpitations, 40.6% had tachycardia, 34.4% had sweating, and 31.3% had headaches. Initial presenting symptoms were diverse. Pheo is a rare clinical entity and remains a huge diagnostic challenge for all clinicians.
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PMID:Lack of symptoms in patients with histologic evidence of pheochromocytoma: a diagnostic challenge. 1710 71

Pheochromocytomas/paragangliomas (PHEOs/PGLs) in patients with MEN 2 are usually found in the adrenals after the manifestation of medullary thyroid cancer. These PHEOs are commonly bilateral and hormonally active. Tachycardia, diaphoresis and cephalalgia are encountered in 40 %-80 % of patients with PHEOs; hypertension is very prevalent. Plasma concentrations of free metanephrines (or free metanephrines in urine) are best used for the biochemical diagnosis of PHEO/PGL. In patients with biochemically-proven PHEOs/PGLs, anatomical imaging with computed tomography (CT) and/or magnetic resonance imaging (MRI) should be used. False-positive CT/MRI studies can ensue and the specificity of CT/MRI may vary from 50%-90%. Functional imaging (implementing nuclear medicine modalities) should follow anatomical imaging; modalities with PHEO/PGL-specific ligands are a first choice. Among these specific modalities positron emission tomography (PET) with [18F]-fluorodopamine ([18F]DA) stands out as the best overall method. If PHEO/PGL-specific modalities turn out to be negative functional imaging should follow with nonspecific modalities (particularly if recurrent, metastatic or malignant disease is suspected). Treatment is surgical, with expanding use of laparoscopic approaches. Overall half of the patients with malignant PHEOs remain alive for 5 years.
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PMID:Diagnosis, localization and treatment of pheochromocytoma in MEN 2 syndrome. 1985 14

Paragangliomas are rare neuroendocrine tumors which originate from embryonic neural crest cells. These tumors may arise from parasympathetic or sympathetic paraganglia, may secrete catecholamines, and can occur in varied anatomic locations, with some locations being less common than others. Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127. Herein, we report a case of a middle-aged male who was diagnosed with an intrarenal/renal pelvis paraganglioma after presenting in hypertensive crisis with palpitations, headache, and diaphoresis. He was later found to have extensive metastatic disease, as well as genetic testing that showed biallelic inactivation of SDHB and a co-occurring somatic ATRX mutation. Respectively, these germline and somatic mutations have been associated with increased risk of metastatic spread and clinical aggressiveness. Despite multiple surgical resections and various treatment modalities, the patient eventually elected for palliative care measures and died of disease. Together, the findings seen in this patient are unique and serve as an appropriate catalyst for discussing the unusual locations, interesting genetic profiles, and metastatic risk factors that may be associated with paragangliomas.
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PMID:Malignant Intrarenal/Renal Pelvis Paraganglioma with Co-Occurring SDHB and ATRX Mutations. 3170 39