SDHD
Associated Syndrome
Hereditary Pheochromocytoma-Paraganglioma syndrome (Hereditary PPGL syndrome)
Core Cancer Risk(s)
Paragangliomas and Pheochromocytomas (that often secrete hormones that cause high blood pressure, rapid and/or abnormal heartbeat, headaches, sweating, nausea, fatigue, and anxiety). Elevated Risk for renal cancer and gastrointestinal stromal tumors
Inheritance
Autosomal Dominant
Prevalence
Unknown
CANCER
GENETIC CANCER RISK
Endocrine
High Risk
Other
Elevated Risk
Renal
Elevated Risk
CANCER TYPE
PROCEDURE
CANCER RISK
RISK FOR GENERAL POPULATION *
Paraganglioma/Pheochromocytoma
To age 60
43% risk for tumors, only some of which will be malignant
<0.1%
Renal
To age 80
Elevated risk
1.4%
Gastrointestinal Stromal Tumors (GIST)
To age 80
Elevated risk
<0.1%
CANCER TYPE
PROCEDURE
AGE TO BEGIN
FREQUENCY
Paraganglioma/Pheochromocytoma
Clinical monitoring, including blood pressure measurement3, 4
6 to 8 years
Annually
Biochemical screening of serum and urine3, 4
6 to 8 years
Annually
Whole-body MRI with consideration of the head and neck3, 4
6 to 8 years
Every 2 years
Renal
Abdominal MRI (preferred) or CT, with and without IV contrast1
12 years
Every 4 to 6 years
Gastrointestinal Stromal Tumors (GIST)
Complete blood count and attention to symptoms such as gastric bleeding, obstruction, abdominal pain, nausea, etc.4
6 to 8 years
Annually