Phaeochromocytoma and paraganglioma are rare neuroendocrine tumors that arise from chromaffin cells of the adrenal gland and extra-adrenal paraganglia, respectively. These tumors are often characterized by the secretion of catecholamines, which can cause hypertension, palpitations, and other symptoms. Phaeochromocytoma and paraganglioma can be sporadic or inherited, with up to 40% of cases being associated with germline mutations in one of the susceptibility genes, such as SDHD.

SDHD is a tumor suppressor gene located on chromosome 11q23, and its mutations have been associated with hereditary paraganglioma-pheochromocytoma syndrome. Patients with germline SDHD pathogenic variants have an increased risk of developing paraganglioma and phaeochromocytoma, as well as an increased risk of metastasis and recurrence.

Given the rarity of these tumors, there is limited evidence on the optimal management of patients with germline SDHD pathogenic variants. To address this issue, a clinical consensus guideline was developed by the European Network for the Study of Adrenal Tumors (ENS@T) and the European Society of Endocrinology (ESE).

The guideline recommends that patients with suspected or confirmed germline SDHD pathogenic variants undergo regular surveillance with imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) to detect the presence of paraganglioma or phaeochromocytoma. The frequency of imaging studies should be individualized based on the patient’s age, family history, and previous tumor history.

If a tumor is detected, the guideline recommends that the patient undergo surgical resection, if feasible. Surgery is the primary treatment for phaeochromocytoma and paraganglioma, and it can be curative if the tumor is localized and resectable. In patients with metastatic disease, the guideline recommends a multidisciplinary approach that includes surgery, radiation therapy, and systemic therapy with chemotherapy or targeted agents.

https://www.thelancet.com/journals/landia/article/PIIS2213-8587(23)00038-4/fulltext

In addition to imaging studies and surgery, the guideline recommends that patients with germline SDHD pathogenic variants undergo biochemical testing to assess the secretion of catecholamines and their metabolites. Biochemical testing can help identify patients who have functional tumors and guide the selection of appropriate treatment.

The guideline also emphasizes the importance of genetic counseling and testing for family members of patients with germline SDHD pathogenic variants. Genetic testing can identify individuals who are at risk of developing phaeochromocytoma or paraganglioma and enable them to undergo regular surveillance and early detection of tumors.

In conclusion, the clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants provides a valuable resource for clinicians to guide the care of these patients. Regular surveillance with imaging studies, surgical resection of tumors, and biochemical testing can help identify and treat these tumors at an early stage, improving outcomes for patients with germline SDHD pathogenic variants.

Physiotherapy Interventions

While physiotherapy cannot cure these tumors, it can help manage symptoms and improve quality of life.

Patients with phaeochromocytoma and paraganglioma may experience a range of symptoms, including hypertension, palpitations, anxiety, and fatigue. Physiotherapy interventions can help manage these symptoms through exercise, relaxation techniques, and breathing exercises.

Exercise can be beneficial for patients with phaeochromocytoma and paraganglioma, as it can help lower blood pressure, reduce anxiety, and improve overall fitness. A physiotherapist can develop an exercise program tailored to the patient’s needs and abilities, which may include aerobic exercise, strength training, and flexibility exercises.

Relaxation techniques, such as meditation, guided imagery, and progressive muscle relaxation, can help reduce anxiety and promote relaxation. These techniques can be taught by a physiotherapist and practiced regularly at home.

Breathing exercises can also be helpful for patients with phaeochromocytoma and paraganglioma. Slow, deep breathing can help reduce anxiety, lower blood pressure, and promote relaxation. A physiotherapist can teach patients diaphragmatic breathing and other breathing techniques to use when they are feeling anxious or stressed.

In addition to these interventions, physiotherapists can provide education and support to help patients manage their symptoms and improve their quality of life. This may include advice on lifestyle modifications, such as stress management and healthy eating, as well as guidance on pacing activities and conserving energy.

Overall, physiotherapy interventions can be a valuable addition to the management of phaeochromocytoma and paraganglioma, helping patients to manage their symptoms and improve their overall well-being.