Hereditary Paraganglioma-Pheochromocytoma Syndrome (HPPS)

Paragangliomas and Pheochromocytomas

• High blood pressure
• Fast, pounding or fluttering heartbeat
• Abnormal heart rhythm
• Headaches
• Excessive sweating
• Feeling anxious or panicked
• Nausea
• Vomiting
• Fatigue
• Unexplained weight loss

Gastrointestinal Stromal Tumors 

• Abdominal pain or discomfort
• Nausea
• Vomiting

Clear Cell Renal Cell Carcinoma (Kidney Cancer)

• Blood in the urine
• Fever
• Fatigue
• Pulmonary chondromas (lung tumors)
• Cough
• Shortness of breath

Pituitary Adenomas

• Headaches
• Vision problems

Papillary Thyroid Carcinoma (thyroid cancer)

• Difficulty swallowing
• Swollen lymph nodes in the neck

Hereditary paraganglioma-pheochromocytoma syndrome (HPPS) is caused by inherited changes (mutations) in several genes, including SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX and TMEM127, as well as other genes that researchers are still identifying.

People with HPPS have an increased risk of developing:

• Paragangliomas: Usually benign tumors that form along nerve pathways from the base of the skull to the pelvis
• Pheochromocytomas: Usually benign tumors that develop in the adrenal glands above the kidneys
• Gastrointestinal stromal tumors: Tumors that develop in the digestive tract, most often in the stomach
• Renal cell carcinoma: A type of kidney cancer
• Pulmonary chondromas: Benign (noncancerous) tumors in the lungs
• Other rare tumors, including pituitary adenomas and papillary thyroid carcinoma (thyroid cancer)

The types of tumors and level of risk vary depending on the specific gene involved.

Both tumors come from similar types of cells, but they develop in different locations. Paragangliomas form along nerve pathways throughout the body, while pheochromocytomas develop specifically in the adrenal glands located above the kidneys. Both tumors are usually non-cancerous.

No. Not everyone who inherits a gene change associated with HPPS will develop tumors.

For certain HPPS-related genes, including SDHD, SDHAF2 and MAX, tumors are much more likely to develop when the father passes on the gene change. This is known as a parent-of-origin effect.

Yes. While most people with HPPS inherit the condition from a parent, a small number of people have a new genetic change (de novo mutation) that occurs for the first time in them and was not inherited from either parent.