Non-functioning paraganglioma

What it is

From: Orphanet

A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Paraganglioma · Very frequent (99-80%)

A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.

Cerebral hemorrhage · Frequent (79-30%)

Hemorrhage into the parenchyma of the brain.

Chest pain · Frequent (79-30%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.

Dysphonia · Frequent (79-30%)

Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.

Elevated urinary dopamine · Frequent (79-30%)

The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.

Elevated urinary epinephrine · Frequent (79-30%)

The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.

Elevated urinary norepinephrine · Frequent (79-30%)

The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.

Episodic abdominal pain · Frequent (79-30%)

An intermittent form of abdominal pain.

Episodic hyperhidrosis · Frequent (79-30%)

Intermittent episodes of abnormally increased perspiration.

Fatigue · Frequent (79-30%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Flushing · Frequent (79-30%)

Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.

Hypercalcemia · Frequent (79-30%)

The concentration of calcium in the blood circulation is above the upper limit of normal.

Hypertension associated with pheochromocytoma · Frequent (79-30%)

A type of hypertension associated with pheochromocytoma.

Hypertensive retinopathy · Frequent (79-30%)

Condition of the retina, secondary to severe systemic arterial hypertension which can be acute or longstanding. Features include one or several of the following: retinal vascular tortuosity, arteriovenous crossing signs, retinal cotton wool spot and intraretinal hemorrhages. It can be associated with optic disc swelling.

Other findings in the same source

From: Orphanet

Additional reported features include Nausea (Frequent (79-30%)); Palpitations (Frequent (79-30%)); Paroxysmal vertigo (Frequent (79-30%)); Positive regitine blocking test (Frequent (79-30%)); Pulsatile tinnitus (Frequent (79-30%)); Recurrent paroxysmal headache (Frequent (79-30%)); Sinus tachycardia (Frequent (79-30%)); Weight loss (Frequent (79-30%)); Paraganglioma of head and neck (Frequent (79-30%)); Conductive hearing impairment (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult; Childhood; Elderly

Frequency and the population described

From: Orphanet

Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Non-functioning paraganglioma is Endocrinology, with a endocrinologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which hormone or metabolic finding is important in this case?
• How should test timing and current medicines be taken into account?
• What follow-up would show whether the care plan is working?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Non-functioning paraganglioma. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.