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New NIH Study of Pheochromocytoma
The research group under Dr. Karel Pacak at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the U.S. National Institutes of Health (NIH) has opened a new protocol, or research study, on all kinds of pheochromocytomas. The goal of this study is to find better ways to screen for pheochromocytoma in the general population.
Some of you who are old enough to remember President Dwight Eisenhower will remember that he had heart problems. In March 2008 the results of his autopsy were released: he had a pheochromocytoma that was causing his heart disease, which was not identified until the autopsy – a little late to be of help to him. Unfortunately this is not at all unusual. But it is useful to note here because here was a man who was getting the best available health care at the time, and they still missed diagnosing the pheo.
Pheochromocytoma is a neuroendocrine tumor of the adrenal gland, meaning that it produces hormones. Neuroendocrine describes certain cells that release hormones (neurohormones) into the blood in response to stimulation of the nervous system. These hormones interact with the nervous system, As one example, the neurohormone adrenaline gives you extra strength and speed in an emergency. In the case of pheochromocytoma, the hormones produced by the tumor cause the heart and blood vessels to run faster, work harder, even when there is no reason to do so.
Pheos can occur in VHL. When they do, 80% of them occur in or near the adrenal glands, which sit on top of the kidneys. 20%, however, can occur in other parts of the body. These “extra-adrenal” (outside the adrenal) pheos are called paragangliomas. When they occur in the neck, near the mass of nerves near the carotid artery, they are sometimes called carotid body tumors. All of these neuroendocrine tumors are in a family that we call pheochromocytomas.
Under Dr. Pacak’s earlier study, there were very high requirements for being accepted into the study. For the current protocol, however, people with any pheochromocytoma can apply in order to obtain a diagnosis. The study does not pay for transportation and housing, and the tests and treatment are free.
There are five genetic flaws that can increase a person’s risk of having a pheochromocytoma. If you know you have VHL, then you know you are at risk and can watch for signs. But in most cases, people may not know there is a genetic predisposition in their family that might lead to a pheo. And even when the symptoms are very clear, doctors are frequently slow to make a diagnosis of pheochromocytoma, wrongly feeling that “they are so rare, I would never do the test.” Clearly we need better tests, easier to administer, that will tell the doctor clearly that they are dealing with a pheo.
If you know you have a pheo but your doctor can’t find it, or if you feel you may have a pheo, and your local doctors are reluctant to call it a pheo, feel free to call and apply to be part of the protocol. As a participant in this protocol you will be asked to undergo a series of tests to determine whether it’s a pheo, where the pheo is, and potentially receive a recommendation for treatment. You would then have the option of accepting treatment at the NIH or taking these results back to your local doctors.
The protocol is “Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma”, Principal Investigator is Dr. Karel Pacak. Karen Adams is the clinical research nurse on his team. You can reach Karen to discuss your own situation at adamskt@mail.nih.gov or (301) 402-7785. The complete protocol can be found at http://clinicaltrials.gov/ct2/show/NCT00004847
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