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Familial Pheochromocytoma

Islet Cell Tumor Syndrome


Presentation

  • We present a concept that, in familial pheochromocytoma, the metabolism of catecholamines is altered by the process of aging, and that this change modifies the clinical presentations of the disease.[ncbi.nlm.nih.gov]
  • Conference: 11th Annual ENETS Conference (2014) Category: Clinical cases/reports Presenting Author: MD, PhD Viera - Bajciova[enets.org]
Splenectomy
  • Abstract During a 15-year-period (1973-1987), 13 patients with familial pheochromocytoma (PCC) underwent unilateral (n 7) or bilateral (n 6) total adrenalectomy without major operative morbidity (1 incidental splenectomy in 8 left-side adrenalectomies[ncbi.nlm.nih.gov]
Difficulty Walking
Heat Intolerance
  • The patient reported sweating and heat intolerance over the previous two months, and her BP at the consultation was 158/92 mmHg. There were no changes in routine laboratory tests.[elsevier.es]
Pharyngitis
  • […] paragangliomas may present as enlarging masses that are asymptomatic or associated with symptoms of mass effects from size and location of tumors Associated symptoms may include unilateral hearing loss, pulsatile tinnitus, cough, hoarseness of voice, pharyngeal[basicmedicalkey.com]
  • Non-secreting (parasympathetic) PGLs are predominantly located in the head and neck and present as enlarging masses that may be asymptomatic or may be associated with unilateral hearing loss, pulsatile tinnitus, cough, hoarseness of voice, pharyngeal[orpha.net]
Dyspepsia
  • At the age of 40, she underwent work-up for dyspepsia and diarrhea, and an abdominal ultrasound examination revealed a right adrenal nodule.[elsevier.es]
Jaundice
  • Colon 415 Chapter 19 Hepatic Physiology 427 Chapter 20 Portal Hypertension 443 Chapter 21 Calculous Disease of the Gallbladdeer and Common Bile Duct 455 Chapter 22 Normal Exocrine Function and Inflammatory Diseases of the Pancreas 469 Chapter 23 The Jaundiced[books.google.de]
Skin Lesion
  • Her mother had the same skin lesions and was also found to have pheochromocytoma. Both patients underwent surgical resection and the postoperative courses were uneventful; the daughter subsequently married and delivered a healthy child.[ncbi.nlm.nih.gov]
Retinal Lesion
  • In four patients, pheochromocytoma antedated the development of retinal lesions. Ten members also had mild hypercalcemia without accompanying elevations of PTH in the 4 patients in whom this was determined.[ncbi.nlm.nih.gov]
Photophobia
  • Clinical Features : A10-year old male, presented to our pediatric outpatient clinic with gradually increasing holocranial headache, blurring of vision, sweating, photophobia, progressive quietness in nature and poor performance in school, increased thirst[lifescienceglobal.com]
Blurred Vision
  • Other less common symptoms may include pale skin, blurred vision, weight loss, constipation, abdominal pain, high blood sugar levels, low blood pressure, and psychiatric disturbances.[columbiasurgery.org]
Suggestibility
  • Vena caval sampling for catecholamines confirmed all adrenal tumors but suggested additional tumors not verified at operation in two of three patients.[ncbi.nlm.nih.gov]
Grieving
  • Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Luiz Boguszewski C, Dutta P, Thakker RV, Srirangalingam U, Thompson[springermedizin.de]
Convulsions
  • Parents also reported two episodes of generalized convulsions with one episode of opisthotonic posturing and up rolling of eyes, which was sustained for 50 min.[lifescienceglobal.com]

Workup

  • Surgical resection of the tumor is the treatment of choice and usually cures the hypertension (see Workup and Treatment).[emedicine.medscape.com]
  • All patients presented with uncontrolled hypertension and were found to have Pheochromocytoma on workup. Three patients had unilateral adrenal tumor, and three had bilateral disease. None of the patients had extra-adrenal Pheochromocytoma.[urologyannals.com]
  • ., adrenal incidentalomas) or genetic testing in at-risk family members.[ 21 - 24 ] Diagnostics The diagnosis of pheochromocytoma is usually suspected by the presence of an adrenal mass or a workup.[cancer.gov]

Treatment

  • After three cycles of treatment with cisplatin and 5-fluorouracil, a decrease in the need for antihypertensive treatment occurred, which lasted almost 2 years despite the discontinuation of chemotherapy.[ncbi.nlm.nih.gov]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.de]

Prognosis

  • Presence of other manifestations of familial pheochromocytoma significantly influenced the clinical course and prognosis. However, it had no bearing on operative outcome of these patients.[ncbi.nlm.nih.gov]
  • Conference: 11th Annual ENETS Conference (2014) Category: Epidemiology/Natural history/Prognosis - Prognosis Presenting Author: Guillermo Ropero Luis To read results and conclusion, please login ...[enets.org]
  • Prognosis The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Other associated features should be suspected, investigated, and treated in these patients that can influence patients' clinical course and prognosis. Family members should also be screened to achieve early diagnosis.[urologyannals.com]
  • Treatment and prognosis Definitive treatment is surgical, and if complete resection is achieved, without metastases, then surgery is curative, and hypertension usually resolves.[radiopaedia.org]

Etiology

  • However, because VHL mutations have not been detected in sporadic pheochromocytomas, VHL and/or another chromosome arm 3p gene may be involved in the etiology of these tumors.[ncbi.nlm.nih.gov]
  • Etiology Up to 10% of genetically determined PCC/PGLs are due to a SDHx germline mutation.[orpha.net]
  • Etiology and Pathophysiology Pheochromocytomas produce catecholamines in circulation that causes episodic hypertension.[unboundmedicine.com]
  • Phenotype / cell stem origin Crest neural cells Etiology Phaeochromocytoma is an inherited form of cancer in 10% to 25% of cases.[atlasgeneticsoncology.org]
  • Etiology The etiology of tumorigenesis in PH and secreting PGL is unknown, although valuable information has recently been provided by work on the genomics of familial diseases including these tumors.[ojrd.biomedcentral.com]

Epidemiology

  • Abstract Long-term epidemiological and laboratory studies were carried out in a kindred with familial pheochromocytoma associated with von Hippel-Lindau disease.[ncbi.nlm.nih.gov]
  • Conference: 11th Annual ENETS Conference (2014) Category: Epidemiology/Natural history/Prognosis - Prognosis Presenting Author: Guillermo Ropero Luis To read results and conclusion, please login ...[enets.org]
  • Summary Epidemiology Hereditary PGL/PCCs represent 30% of all PGL/PCC, for which prevalence is around 1/500,000 for PCC and 1/1,000,000 for PGL.[orpha.net]
  • Epidemiology Incidence Incidence is 0.8/100,000 person-years. Prevalence Mostly diagnosed in 4th to 5th decade It can occur in women and men equally and can affect all ages. Average age of diagnosis is 42 years.[unboundmedicine.com]
  • […] toxicity Cardiac biopsy shows myocytolysis, interstitial fibrosis and mononuclear inflammation Diagnosis: Increased urinary excretion of catecholamines or metabolites (vanilllylmandelic acid-VMA or total metanephrines) Elevated serum chromogranin A levels Epidemiology[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology and Rationale for Treatment 197 Chapter 10 The Physiology of Anesthesia and Pain 213 Chapter 11 Sepsis and the Syndrome of Multiple Organ Failure 227 Chapter 12 Application of Cellular and Molecular Biology in Modern Surgical Practice[books.google.de]
  • Etiology and Pathophysiology Pheochromocytomas produce catecholamines in circulation that causes episodic hypertension.[unboundmedicine.com]
  • Despite recent advances in the understanding of the pathophysiology and molecular genetics of adrenal tumors, a number of important scientific questions remain.[medicine.yale.edu]
  • Pathophysiologically, an impaired ability of intracellular oxygen sensing might be involved in tumorigenesis, resulting in constant signaling of hypoxia in the cell.[em-consulte.com]
  • (See Pathophysiology, Prognosis, and Treatment.) [1] About 85% of pheochromocytomas are located within the adrenal glands, and 98% are within the abdomen.[emedicine.medscape.com]

Prevention

  • Conclusion : Though pheochromocytomas are rare tumours, a high level of suspicion in paediatric age group, where patients don’t present with classical symptoms, leads to early diagnosis and management and prevents catastrophic events.[lifescienceglobal.com]
  • No specific treatment has been proposed for prevention of the disease in inherited disorders. Thus, early diagnosis and regular follow-up are the only means for a better outcome.[ncbi.nlm.nih.gov]
  • […] counselors dedicated to providing patients with access to personalized hereditary risk evaluation, genetic testing, recommendations for screening and prevention, and long-term follow-up.[dana-farber.org]
  • Alpha blockade should proceed beta blockade to prevent unopposed alpha receptors stimulation and severe hypertension. During surgery, Nitroprusside infusion is used for emergency elevation in the blood pressure.[lecturio.com]
  • Cancer screening/surveillance protocols Early recognition and testing of at-risk individuals is key to the prevention of morbidity and mortality in vHL.[clincancerres.aacrjournals.org]

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