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GENETIC TESTING PHEOCHROMOCYTOMA & PARAGANGLIOMA Special Thanks to... what is pheo?

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  • 30-40% of pheos and paras are here-ditary. There are more than a dozengenes that have been linked to pheopara. The most common are SDHA,SDHB, SDHC, SDHD, VHL, NF1 & RET.More information about each of thesegenes can be found in the geneticsbrochure and at pheopara.org.

    A GUIDE TO

    All educational information is vetted by our MedicalAdvisory Board, We also utilize current guidelines andrelevant research. For more detailed info go topheopara.org. Printed 3/2020.

    GENETIC TESTING

    There is no test to determine if a pheoor para is malignant. The disease iscancerous if it has spread to other partsof the body. This happens in 15-25% ofcases. It is more common for parasthan for pheos to become malignant,except for paras in the head and neck.The likelihood that a pheo or parabecome malignant also depends onthe type of genetic mutation, if one ispresent.

    A pheochromocytoma (fee-o- kroe-moe-sy-TOE- muh) is a rare, usually non-cancerous (benign), slow-growingneuroendocrine tumor that develops incells in the center of an adrenal gland, called the adrenal medulla. These twoadrenal glands, one located above eachkidney, produce hormones calledcatecholamines. Pheochromocytoma(pheo) typically produce an excessamount of catecholamine hormones,which include norepinephrine(noradrenaline), epinephrine(adrenaline), & dopamine. Thesehormones produce the "fight or flight"response.

    PHEOCHROMOCYTOMA & PARAGANGLIOMA

    If detected early, pheo

    para can be successfully

    treated in the majority

    of cases

    The illness can be referred toas pheochromocytoma

    (pheo), paraganglioma (para), pheo para or PPGL

    Special Thanks to...

    Pheo Para Alliance

    pheopara.org / [email protected] / @pheopara

    Pheo ParaAlliance MedicalAdvisory Board

    what is pheo?

    Pheos form in theadrenal glandslocated above

    kidneys.

    30-40% of pheos and parasare hereditary.  If you are

    diagnosed talk to your doctorabout genetic testing.

    about 2 to 8 per 1 millionpeople are diagnosed each

    year with pheo para

    If you have a genetic mutation, yourchildren have a 50% chance of inher-iting it. Even if your children inherit thegene, that doesn’t mean that they willdevelop a tumor, but regular monitor-ing is important. Regular screening cancatch tumors before you havesymptoms.

  • connecting with others who

    have pheo para can be

    comforting. @pheopara

    SYMPTOMS

    what is para?Paraganglioma (păr′ə-găng′glē-ō′mə) orpara is a rare, usually noncancerous(benign), slow-growing tumor that isclosely related to pheo, but even morerare. Paras are extra-adrenal whichmeans they form outside of the adrenalglands, in the sympathetic andparasympathetic nervous system.

    Although it is rare, some para do notproduce catecholamines so symptomsmay not occur. These non-secretingparas are often found incidentally fromimaging for another reason.

    Symptoms of pheo para:High blood pressureRapid or forceful heartbeatProfound sweating Severe headacheTremorsPaleness in the faceShortness of breathSensation of panic or doom AnxietyAbdominal pain / ConstipationWeight loss

    Pheo para can occur at any age, butmost commonly affect people betweenthe ages of 20 and 50. If you experiencethe symptoms below, you should see adoctor to get an accurate diagnosis, asmany of these symptoms can becaused by other conditions. The release of catecholamines frompheos and paras can cause persistent orepisodic high blood pressure, head-ache, sweating and other symptoms. Ifleft untreated, life-threatening damage,especially to the cardiovascular system,can result.

    DIAGNOSISIf pheo para is suspected, you should seean endocrinologist, (a doctor whospecializes in hormonal disorders) whohas pheo para experience. The twenty-four hour urine and blood (plasma) testsare used if pheo or para is suspected.

    Imaging, taking pictures of the inside ofthe body, is often used once bio-chemical tests indicate a pheo or para.Imaging will help to identify where, howmany, and size of the tumor(s).  CT/MRIare often used, but functional imaginginvolving the use of a radioactivesubstance to take pictures of the bodymay also be used.

    TREATMENTIf possible, the treatment of choice issurgery to remove the tumor(s).Surgical treatment usually returnsblood pressure to normal andalleviates symptoms. Alternatively, anexperienced doctor may suggest onlyregular monitoring of the tumor(s) ifthey are not secreting catecholamines,there are no symptoms and thetumor(s) are stable (not growing). Radiation, chemotherapy orradionuclide therapy may be used ifsurgery is not possible. More informat-ion about these treatments can befound at pheopara.org.  Before undergoing surgery, patientsmust be adequately “blocked” withmedication. Anesthesia andmanipulation of the tumor(s) cancause the release of catecholaminesduring surgery, which may result in ahypertensive crisis and even death. Thisis why it is usually not recommendedfor patients to have a biopsy of thetumor if pheo para is suspected.

    Para commonly format the base of theskull, neck, chest,

    abdomen, and pelvis.

    It is critical that patients are

    "blocked" with medication

    before undergoing surgery.

    A urine test or plasma test should berepeated 4-8 weeks after surgery tocheck for any remaining disease. Urineor plasma tests should be performedannually to detect remaining disease,return of the disease, or thedevelopment of metastases.

    Pheo is often referred to as the “greatmimic”. Receiving a diagnosis anddistinguishing pheo para from otherconditions can be a challenge. In arecent survey, 35% of respondentsindicated it took  4+ years to receive adiagnosis.