Hereditary paraganglioma-pheochromocytoma syndromeis a condition in which tumors develop in structures called paraganglia. Paraganglia are bundles of cells of the peripheral nervous system (the nerves outside the brain and spinal cord). A tumor that develops in the paraganglia is called a paraganglioma.
There are two types of paragangliomas:
Sympathetic paragangliomas — These produce and release catecholamines into the bloodstream. Catecholamines are certain kinds of hormones, such as epinephrine, norepinephrine and dopamine. Hormones are chemical messengers that send important instructions to different parts of the body. Normally, catecholamines are released into the bloodstream by the adrenal glands. The adrenal glands, located on top of each kidney, produce catecholamines in response to stress.
Parasympathetic paragangliomas — These do not usually release catecholamines into the bloodstream.
Most paragangliomas are usually found in the head, neck or torso. A specific type of sympathetic paraganglioma, called a pheochromocytoma, develops in the adrenal glands.
Definitions - the differences between Hereditary vs Familial vs Genetic DisordersI wanted to start with these definitions because people may unintentionally use these three terms interchangeably which is sometimes not the correct use of the information being conveyed. However, after studying this subject, I can tell you it is a very complex area and difficult to explain and then understand in a single paragraph. Even these widely accepted definitions don't make it any more understandable! The terms ‘hereditary’ and ‘familial’ look like synonyms and are frequently used interchangeably but are two different concepts. ‘Hereditary’ is most commonly used when referring to diseases with a known genetic cause whereas ’Familial’ disorders are those which appear to have a genetic component, affecting more family members than would be expected by chance alone. However,…
One of the curious things about Neuroendocrine Cancer (NETs elsewhere in the text) is that it can very often exhibit one or more vague symptoms collectively known as a 'syndrome'. Syndrome is an apt word to describe these complications as the most general meaning in medical terms is a group of symptoms that together are characteristic of a specific disorder or disease". Having a syndrome can often be the difference between having a 'functional' condition or a non-functional' condition - see more below.This frequently makes Neuroendocrine Cancer very difficult to diagnose quickly. It's a very devious disease.It's NOT all about Carcinoid Syndrome!Most people think of Carcinoid Syndrome when they discuss NETs. Anyone suggesting that all NET patients get carcinoid syndrome or that all symptoms of NETs are caused by carcinoid…