The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

Pheochromocytoma/Paraganglioma — Genetic Screening

Hereditary syndrome screening in catecholamine-secreting tumors.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Internal Medicine department. Book Appointment →

What is Pheochromocytoma/Paraganglioma — Genetic Screening?

Pheochromocytoma (originating from the adrenal medulla) and paraganglioma (originating from extra-adrenal paraganglia) are catecholamine-secreting neuroendocrine tumors. The genetic association previously defined by the '10% rule' has been revised today, with germline mutations detected in up to 40% of patients.

Major associated genes: SDHx (SDHA, SDHB, SDHC, SDHD — succinate dehydrogenase subunits), VHL (von Hippel-Lindau), RET (MEN2), NF1 (neurofibromatosis type 1), TMEM127, MAX, and FH (fumarase hydratase) genes.

SDHB mutation is particularly important regarding metastatic disease risk (30-70% malignancy risk). Screening strategies and surgical approach are determined according to genetic results.

Symptoms

Paroxysmal hypertension (in attacks)
Triad of headache, sweating, and palpitations
Anxiety and panic-like attacks
Pallor (due to vasoconstriction)
Orthostatic hypotension (paradoxical finding)

Risk Factors

Family history (pheochromocytoma, paraganglioma, or related syndromes)
Bilateral or multifocal tumor
Diagnosis at young age (<45 years)
Extra-adrenal location (paraganglioma)
Known hereditary syndrome (VHL, MEN2, NF1)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • If paroxysmal hypertension + classic triad (headache, sweating, palpitations) is present
  • If pheochromocytoma is suspected in adrenal incidentaloma
  • If there is a family history of pheochromocytoma or related syndrome
  • If hypertensive crisis (>180/120) attacks develop → EMERGENCY

Treatment Methods

01
Preoperative alpha-blockade (phenoxybenzamine or doxazosin, 2-4 weeks)
02
Beta-blockade (added after adequate alpha-blockade)
03
Laparoscopic adrenalectomy (preferred surgical approach)
04
Genetic counseling and germline gene panel testing (all patients)
05
If SDHB mutation positive: Lifelong metastasis screening
06
Metastatic disease: MIBG therapy, chemotherapy, or temozolomide

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Endokrinoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Thyroid Nodule Evaluation

Endokrinoloji

Thyroid nodules are very common and the vast majority are benign; however, fine-needle aspiration biopsy may be required based on ultrasound features for malignancy risk assessment.

Management of Graves' Disease

Endokrinoloji

Graves' disease is the most common cause of autoimmune hyperthyroidism, developing with excessive stimulation of the thyroid gland by thyroid-stimulating antibody (TRAb).

Management of Hashimoto's Thyroiditis

Endokrinoloji

Hashimoto's thyroiditis is the most common cause of hypothyroidism, due to autoimmune destruction of the thyroid gland with anti-TPO and anti-thyroglobulin antibodies.

Primary Adrenal Insufficiency (Addison's Disease)

Endokrinoloji

Addison's disease is a potentially life-threatening endocrine disorder presenting with cortisol and aldosterone deficiency due to autoimmune destruction of the adrenal glands.

Cushing Syndrome Diagnostic Workup

Endokrinoloji

Cushing syndrome is an endocrine disorder presenting with central obesity, striae, hypertension, and metabolic disturbances due to chronic glucocorticoid excess; its diagnosis is challenging.

Pheochromocytoma and Paraganglioma

Endokrinoloji

Pheochromocytomas and paragangliomas are rare tumors that secrete excess catecholamines, causing paroxysmal hypertension, headache, sweating, and palpitations.

Primary Hyperaldosteronism (Conn Syndrome)

Endokrinoloji

Primary hyperaldosteronism is a treatable cause of resistant hypertension and hypokalemia caused by excessive aldosterone secretion from the adrenal gland.

Comprehensive Evaluation of Hypopituitarism

Endokrinoloji

Hypopituitarism is a deficiency of pituitary hormone production that leads to multiple endocrine organ failures and requires lifelong hormone replacement.

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.