8/10/2019 What are?the causes and symptoms of pheochromocytoma?

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What are the causes and symptoms of pheochromocytoma?

The cause of most pheochromocytomas is not known. A small minority (about 10-20%) of

pheochromocytomas arise because a person has an inherited susceptibility to them. Inheritedpheochromocytomas are associated with four separate syndromes: Multiple Endocrine Neoplasia,

type 2A (MEN2A), Multiple Endocrine Neoplasia, type 2B (MEN2B), von Hippel-Lindau disease

(VHL) and Neurofibromatosis type 1 (NF1).

Individuals with pheochromocytomas as part of any of these four syndromes usually have other

medical conditions as well. People with MEN2A often have cancer (usually thyroid cancer) and other

hormonal problems. Individuals with MEN2B can also have cancer and hormonal problems, but also

have other abnormal physical features. Both MEN2A and MEN2B are due to genetic alterations or

mutations in a gene called RET, found at chromosome 10q11.2. Individuals with VHL often have

other benign tumors of the central nervous system and pancreas, and can sometimes have renal cellcancer. This syndrome is caused by a mutation in the VHL gene, found at chromosome 3p25-26.

Individuals with NF1 often have neurofibromas (benign tumors of the peripheral nervous system).

NF1 is caused by mutations in the NF1 gene, found at chromosome 17q11.

All of these disorders are inherited in an autosomal dominant inheritance pattern. With autosomal

dominant inheritance, men and women are equally likely to inherit the syndrome. In addition,

children of individuals with the disease are at 50% risk of inheriting it. Genetic testing is available

for these four syndromes (MEN2A, MEN2B, VHL basal body temperatureand blood testNF1) but,

due to the complexity, genetic counseling should be considered before testing.

Most people (90%) with pheochromocytoma have hypertension, or high blood pressure. The other

symptoms of the disease are extremely variable. These symptoms usually occur in episodes (or

attacks) called paroxysms and include:

headaches

excess sweating

racing heart

rapid breathing

anxiety/nervousness

nervous shaking

pain in the lower chest or upper abdomen

nausea

heat intolerance

The episodes can occur as often as 25 times a day or, as infrequently as once every few months.

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8/10/2019 What are?the causes and symptoms of pheochromocytoma?

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