Speaking of lumps ...
(Today, genetic testing for von Hippel-Lindau [VHL] disease and other hereditary links can be carried out at the Cancer Research Initiatives Foundation in Subang Jaya, Selangor.)
The Great Mimic
That lead me to a story that needs telling – what exactly is pheochromocytoma anyway?
Someone asked me why I wanted to pursue this “dry” subject, especially since the disease was so rare. But just as I found relief and comfort in better understanding my own condition, surely, pheo sufferers would be glad to finally have an answer for their unexplained symptoms.
The first time I had heard of it was on the TV series Grey’s Anatomy.
Scott Foley played a patient with VHL disease, and was diagnosed with a “dangerous tumour of the adrenal gland” called a pheochromocytoma.
Foley was great eye candy, but it was also an eye-opener as to how dangerous pheos can be, as they emit bursts of adrenaline at random intervals.
This can cause sudden spikes in heart rate or blood pressure, and can sometimes even lead to a heart attack or stroke.
The problem is, the symptoms often tend to masquerade as other diseases, and less experienced doctors may give the wrong diagnosis. Hence, pheo is sometimes referred to as “The Great Mimic”.
And no wonder, as ordinary symptoms such as headaches, sweating, and heart palpitations associated with hypertension, are usually primary indicators that something’s not right.
Consultant endocrinologist Dr Hew Fen Lee says that pheos “can come in various shapes and sizes”, meaning there are different presentations and symptoms.
“Many are classical symptoms, but even if they are, any doctor who doesn’t think of it will easily miss it. Thus, many patients often end up seeing a host of doctors before somebody stumbles on the right path and looks for it.
“The test for pheo may even turn out negative sometimes as the hormone may be secreted intermittently.
“Some patients only find out during an operation (for something else). There are also many who show no or mild symptoms.
“One patient was incidentally found to have a swelling in the adrenal gland and this subsequently turned out to be pheo,” he explains.
Drugs (tyrosine kinase inhibitors) may be prescribed to inhibit the formation of hormones by the tumour.
Alpha blockers to control blood pressure may be used as well.
In Malaysia, pheo cases are relatively rare, although not as rare as paragangliomas, which statistics indicate as one in 300,000 cases per year in the population. In the US, about 800 new pheo cases are diagnosed each year.
Pheos can also occur in combination with other tumours, conditions and in some familial (inherited) syndromes, and a series of tests can ascertain if specific hormone levels are not normal.
It is also associated with VHL syndrome, a rare, autosomal dominant genetic condition in which haemangioblastomas (blood vessel growths) are found in the cerebellum, spinal cord, and retina.
Usually benign
According to MedicineNet.com, pheos may occur at any age, but usually appear in those between their 30s and 50s, and approximately 10% occur in children.
Although the majority of cases are benign, about 10% of extra-adrenal pheos end up being malignant, especially when they occur in parts of the body that don’t contain chromaffin cells and are not part of the sympathetic nerve chain.
Those in the liver, lungs, or bones may be considered malignant with possible metastases to other organs.
“A malignant pheo is rare and very often, surgery is the only cure as other treatments don’t work so well.
The problem is whether they (pheos) are recognised and referred appropriately,” Dr Hew elaborates.
Scans such as MRI or CT scans will reveal any mass in the adrenal glands, and usually, surgery is recommended to remove the tumour(s).
In the case of malignant pheos, chemotherapy or radiation therapy may be required after surgery.
“Pheo is rare and the symptoms fairly nonspecific. If you’re concerned, consult a doctor and request initial tests or referral to an endocrinologist,” he advises.
Unfortunately, as with any other paraganglioma, there’s no guarantee the tumour won’t recur after surgery, and the only way to manage pheo effectively is long-term consistent follow-up care.