Carotid body tumor

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]

Synonyms and keywords: Tumor of the carotid body;

Overview

Carotid body tumor (also known as carotid body paraganglioma) is a highly vascular glomus tumour that arises from the paraganglion cells of the carotid body. It is located at the carotid bifurcation with characteristic splaying of the internal carotid artery and external carotid artery.

Historical Perspective

• Carotid body tumor was first described by Bungeler in 1952.

Classification

• Carotid body tumor is classified into 3 categories:

• Familial
• Sporadic
• Hyperplastic

• Carotid body tumor may also be classified according to Shamblin surgical classification into 3 subtypes: I, II, and III.

Pathophysiology

• The pathogenesis of carotid body tumor is characterized by the overgrowth from chemoreceptor paraganglioma cells.
• The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
• On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
• On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
• The images below demonstrate gross pathology and microscopic histopathological findings of the carotid body tumor.

Causes

• Carotid body tumor may be caused by either [cause1], [cause2], or [cause3].
• Carotid body tumor is caused by a mutation in the [gene1], [gene2], or [gene3] gene[s].

Differentiating Carotid Body Tumor from Other Diseases

• Carotid body tumor must be differentiated from other diseases that cause rounded neck mass, limited range of head motion, and dyspnea such as:

• Vagal schwannoma
• Vagal neurofibroma
• Lymph node mass
• Glomus vagale tumour
• Carotid bulb ectasia

Epidemiology and Demographics

• The prevalence of carotid body tumor is approximately [number or range] per 100,000 individuals worldwide.
• In [year], the incidence of carotid body tumor was estimated to be [number or range] cases per 100,000 individuals in [location].

Age

• Carotid body tumor is more commonly observed among patients aged 40 to 50 years old.
• Carotid body tumor is more commonly observed among adults.

Gender

• Females are more commonly affected with carotid body tumor than males.

Race

• There is no racial predilection for carotid body tumor.

Risk Factors

• Common risk factors in the development of carotid body tumor are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Natural History, Complications and Prognosis

• The majority of patients with [disease name] remain asymptomatic for [duration/years].
• Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
• If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
• Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
• Prognosis is generally [excellent/good/poor], and the [1/5/10­year mortality/survival rate] of patients with [disease name] is approximately [#%].

Diagnosis

Diagnostic Criteria

• The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:

• [criterion 1]
• [criterion 2]
• [criterion 3]
• [criterion 4]

Symptoms

• Carotid body tumor is usually asymptomatic.
• Symptoms of [disease name] may include the following:

• [symptom 1]
• [symptom 2]
• [symptom 3]
• [symptom 4]
• [symptom 5]
• [symptom 6]

Physical Examination

• Patients with [disease name] usually appear [general appearance].
• Physical examination may be remarkable for:

• [finding 1]
• [finding 2]
• [finding 3]
• [finding 4]
• [finding 5]
• [finding 6]

Laboratory Findings

• There are no specific laboratory findings associated with [disease name].

• A [positive/negative] [test name] is diagnostic of [disease name].
• An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
• Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

Imaging Findings

• There are no [imaging study] findings associated with [disease name].

• [Imaging study 1] is the imaging modality of choice for [disease name].
• On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
• [Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

• Carotid body tumor may also be diagnosed using [diagnostic study name].
• Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

• There is no treatment for [disease name]; the mainstay of therapy is supportive care.

• The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
• [Medical therapy 1] acts by [mechanism of action1].
• Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].

Surgery

• Surgery is the mainstay of therapy for [disease name].
• [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
• [Surgical procedure] can only be performed for patients with [disease stage] [disease name].

Prevention

• There are no primary preventive measures available for [disease name].

• Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

• Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].