The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.
This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.
The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the SDHD gene.
This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.
Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.
It is appropriate to offer genetic counseling to individuals with Hereditary PPGL syndrome who are of reproductive age to discuss reproductive risks and options. There are additional considerations during pregnancy for women with Hereditary PPGL syndrome.5
The SDHD gene shows a parent of origin effect. In most cases, only children who inherit the SDHD gene mutation from their fathers are at increased risk to develop the disease manifestations associated with Hereditary PPGL syndrome. However, it is not yet certain that there is no risk when the SDHD gene mutation is inherited from the mother.4, 5
Since SDHD mutations carry a risk for complications in children and some screenings are recommended to begin as early as age 6 years, consideration should be given to mutation testing in childhood.2
In rare instances, an individual may inherit mutations in both copies of the SDHD gene, leading to mitochondrial disease (such as Mitochondrial Complex II Deficiency). These conditions are rare and symptoms can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. The children of this patient are at risk of inheriting these conditions only if the other parent is also a carrier of an SDHD mutation. A child of this patient may be at risk for these conditions even if the other parent does not yet have a diagnosis of Hereditary PPGL syndrome. Screening the other biological parent of any children for SDHD mutations may be appropriate.7