Pheochromocytoma in genetic disorders
- William F Young, Jr, MD, MSc
William F Young, Jr, MD, MSc
- Professor of Medicine
- Mayo Clinic College of Medicine
- Section Editors
- André Lacroix, MD
André Lacroix, MD
- Section Editor — Adrenal Disease
- Professor of Medicine
- University of Montreal, Quebec, Canada
- Benjamin A Raby, MD, MPH
Benjamin A Raby, MD, MPH
- Section Editor — Genetics
- Associate Professor of Medicine
- Harvard Medical School
Pheochromocytoma is a rare neoplasm, probably occurring in less than 0.2 percent of patients with hypertension [1,2]. Pheochromocytoma in genetic disorders will be reviewed here. The diagnosis and treatment of pheochromocytoma are discussed separately. (See "Clinical presentation and diagnosis of pheochromocytoma" and "Treatment of pheochromocytoma in adults".)
PHEOCHROMOCYTOMA IN GENETIC DISORDERS
Most catecholamine-secreting tumors are sporadic. However, approximately 30 percent of patients have the disease as part of a familial disorder; in these patients, the catecholamine-secreting tumors are more likely to be bilateral adrenal pheochromocytomas or paragangliomas.
Hereditary catecholamine-secreting tumors typically present at a younger age than sporadic neoplasms . Sporadic pheochromocytoma is usually diagnosed on the basis of symptoms or an incidental discovery on computed imaging, whereas syndromic pheochromocytoma is frequently diagnosed earlier in the course of disease because of biochemical surveillance or genetic testing .
Familial pheochromocytoma — There are several familial disorders associated with adrenal pheochromocytoma, all of which have autosomal dominant inheritance: von Hippel-Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN2) and, less commonly, neurofibromatosis type 1 (NF1).
The approximate frequency of pheochromocytoma in these disorders is 10 to 20 percent in VHL syndrome, 50 percent in MEN2, and 0.1 to 5.7 percent with neurofibromatosis type 1 [5,6]. (See "Clinical features, diagnosis, and management of von Hippel-Lindau disease" and "Clinical manifestations and diagnosis of multiple endocrine neoplasia type 2" and "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis".)
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- PHEOCHROMOCYTOMA IN GENETIC DISORDERS
- Familial pheochromocytoma
- - VHL syndrome
- - MEN2
- - Phenotype of MEN2 versus VHL syndrome
- - Neurofibromatosis type 1
- - Other mutations
- Familial paraganglioma
- Sporadic pheochromocytoma
- - Frequency of genetic abnormalities
- Implications for genetic screening
- GENETIC SCREENING
- Suggested approach
- - Bilateral adrenal pheochromocytoma
- - Young age at presentation
- - Abdominal paraganglioma
- - Skull-base or neck paraganglioma
- - Known mutation
- SUMMARY AND RECOMMENDATIONS