
==== Front
Int J Surg Case Rep
Int J Surg Case Rep
International Journal of Surgery Case Reports
2210-2612
Elsevier

S2210-2612(24)00938-6
10.1016/j.ijscr.2024.110157
110157
Case Report
A 37-year-old female with a carotid body tumor (paraganglioma): A rare case report from Syria
Sleiay Mouhammed abdmouh1234mouhmouh@gmail.com
a⁎1
Alsmoudi Hasan a
Alqreea Mohammed b
Marina Sliman c
Kanaan Ahmad Mostafa d
Aljammal Makia Ali d
a Faculty of Medicine, Hama University, Hama, Syrian Arab Republic
b Orthopedic Surgery Department, Faculty of Medicine, Damascus University, Damascus, Syria
c Faculty of Medicine, Damascus university, Damascus, Syrian Arab Republic
d Surgery Department, Alwatani Hospital, Hama University, Hama, Syrian Arab Republic
⁎ Corresponding author. abdmouh1234mouhmouh@gmail.com
1 Mouhammed Sleiaya,+, Hasan Alsmoudia, Mohammed Alqreeab, Sliman Marinac, Ahmad Mostafa Kanaand, Makia Ali Aljammald are co-first authors. All contributed equally in this paper.

13 8 2024
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© 2024 The Author(s)
2024
https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Introduction and importance

This case study presents the clinical details of a 37-year-old woman who presented with an asymptomatic swelling in the right supraclavicular region, ultimately diagnosed as a carotid body tumor (CBT).

Case presentation

The patient's medical background, which included her brother's CBT, prompted further investigation. Upon clinical examination and imaging studies, a tissue mass surrounding the right internal carotid artery was identified. Subsequent surgical resection of the tumor was performed, and histological analysis confirmed a neoplastic proliferation consistent with paraganglioma.

Clinical discussion

This case highlights the significance of taking into account familial history and conducting comprehensive diagnostic assessments for patients exhibiting similar symptoms. The successful multidisciplinary management of this rare tumor underscores the importance of early detection and appropriate therapeutic interventions.

Conclusion

This report offers valuable insights into the clinical presentation, diagnostic process, and treatment of CBTs, emphasizing the necessity for a comprehensive approach to managing this uncommon neoplasm.

Highlights

• CBTs are predominantly diagnosed in adults aged 50 to 70 years.

• Familial cases are significantly associated with mutations in SDH genes, notably SDHD, SDHB, and SDHC.

• Chronic hypoxia, linked to high altitude or COPD, is a recognized risk factor for CBTs.

Keywords

Carotid body tumor
Internal carotid artery
Paraganglioma
Surgery
==== Body
pmc1 Introduction

The carotid body plays a pivotal role in regulating blood oxygen levels as a chemoreceptor organ, responding to alterations in the partial pressures of oxygen (PaO2) and carbon dioxide (PaCO2), as well as blood pH levels [1]. Consequently, the etiopathogenesis of CBTs encompasses environmental factors, such as chronic hypoxia, observed in populations residing at high altitudes or individuals with chronic obstructive pulmonary disease (COPD). Furthermore, hereditary forms of the disease have been associated with mutations in the succinate dehydrogenase (SDH) genes, particularly implicating SDHD, SDHB, and SDHC [2].

The rarity of CBTs, coupled with their potential for severe complications including cranial nerve impairment, vascular encasement, and, albeit rarely, metastasis, underscores the significance of a comprehensive understanding and a high level of suspicion among clinicians [2,3]. This case report aims to contribute to the expanding knowledge base regarding CBTs, emphasizing the importance of early detection, appropriate diagnostic assessment, and multidisciplinary management strategies [[4], [5], [6]].

This report presents a comprehensive case of a carotid body tumor, highlighting the diagnostic process, clinical presentation, and therapeutic considerations. The patient's medical history, clinical observations, imaging studies, and surgical outcomes provide valuable insights into the multifaceted approach required for managing this rare tumor.

2 Case presentation

A 37-year-old female presented to the hospital's surgery department with a complaint of a painless swelling in the right supraclavicular region that had increased in size recently. The medical history revealed that her brother had a carotid body tumor when he was 35 years old. Upon clinical examination, a palpable pulsatile mass measuring 3.5 cm in diameter was noted. Clinical examination showed swelling superior to the right common carotid artery, moving horizontally and fixed vertically. Doppler ultrasound of the neck showed a clear-border mixed-echo tissue shadow with dimensions of 19 × 15 mm in superior to the right carotid trunk and also showed magnitude in lymphatic nodes around the right vessels of the neck. A computed tomography scan of the neck and brain arteries showed a tissue mass with intense and rapid enhancement of the contrast material, completely surrounding the internal carotid artery (Fig. I, Fig. II, Fig. III, Fig. IV). The computed tomography scan of the chest, abdomen and pelvis did not reveal any abnormalities. Based on this, the patient's carotid body tumor was classified as subtype 3. The tumor was surgically removed, and the histological examination of serial sections showed neoplastic proliferation composed of cuboidal tumor cells separated by highly vascularized fibrous septa, and vary considerably in size and shape and have a finally granual amphophilic cytoplasm which is compatible with paraganglioma.Fig. I A sagittal section of the neck and head shows a carotid body tumor.

Fig. I

Fig. II A coronal section of the neck and head shows a carotid body tumor.

Fig. II

Fig. III Computed tomography angiography of the head and neck shows a coronal section of the vessels, revealing a carotid body tumor on the right side.

Fig. III

Fig. IV Multislice computed tomography reveals the carotid body tumor.

Fig. IV

3 Discussion

CBTs are exceedingly rare, with an estimated incidence of approximately 1–2 cases per 100,000 individuals annually. They account for about 60 % of all head and neck paragangliomas, making them the most prevalent type within this subgroup. However, due to their slow growth and often asymptomatic nature, the true prevalence might be underreported, especially in regions with limited access to advanced diagnostic tools. Intriguingly, the incidence of CBTs exhibits geographical variation [[5], [6], [7]]. Higher frequencies have been reported in populations residing at high altitudes, reflecting the increased physiological demand for oxygen sensing in such environments [7,8]. This observation is consistent with the role of the carotid body in chemoreception and adaptive responses to hypoxia. There is no strong evidence indicating a predisposition in any specific racial group, although some studies suggest a slightly higher occurrence among Caucasians, which could also be influenced by differential access to medical care and diagnostic facilities [4,5]. The patient did not have any of the mentioned environmental risk factors for carotid body tumors (CBTs) in her history.

CBTs are typically diagnosed in adults between the ages of 50 and 70 years, with a slight female predominance noted in some studies. The underlying reasons for this gender disparity are not fully understood and may be attributable to a combination of genetic, hormonal, and lifestyle factors. In familial cases, patients tend to present at a younger age, often in their 20s or 30s, emphasizing the importance of genetic predisposition [6,7]. Approximately 10–15 % of CBTs are familial, following an autosomal dominant pattern with variable penetrance. Mutations in the succinate dehydrogenase (SDH) genes, particularly SDHD, SDHB, and SDHC, play a significant role in familial cases. Patients with these mutations often present with multiple tumors and a higher risk of developing additional paragangliomas at other sites. Genetic screening and counseling are recommended for patients with a family history of the disease [3,5,6].

While the primary cause of sporadic CBTs remains unknown, several environmental and lifestyle factors have been suggested. Chronic hypoxia, whether due to high altitude living or conditions such as chronic obstructive pulmonary disease (COPD), is a well-established risk factor. The exact mechanism linking hypoxia to tumorigenesis in the carotid body involves the chronic stimulation of chemoreceptor cells, potentially leading to hyperplasia and neoplastic transformation [[1], [2], [3], [4], [5]].

The available therapeutic options for carotid body tumors (CBTs) encompass surgical excision, considered the gold standard treatment, following the Shamblin classification system. And the Radiotherapy as an alternative for complicated cases unsuitable for surgical intervention. [1] The surgical approach undertaken involved a meticulous dissection to preserve vital structures, most notably the cranial nerves and carotid artery [[8], [9], [10]]. One of the primary difficulties in CBT excision lies in the vascularity and adherence to the carotid bifurcation, posing risks of significant hemorrhage and cranial nerve deficits [1,2]. In this case, employing intraoperative nerve monitoring and careful hemostatic techniques minimized these risks, leading to a successful outcome with no immediate neurological deficits.

Postoperative care focused on monitoring for potential complications such as stroke, cranial nerve palsies, and hemodynamic instability. Regular follow-up imaging and clinical assessments were crucial in ensuring complete tumor removal and detecting any early signs of recurrence. The patient's recovery was uneventful, and no residual tumor was observed on postoperative imaging, underscoring the importance of thorough surgical planning and execution [[10], [11], [12]].

While surgical resection is preferred, radiation therapy serves as an alternative or adjunctive treatment, especially in cases where surgery is contraindicated or when tumors are inoperable due to extensive local invasion or patient comorbidities. Stereotactic radiosurgery (SRS) or fractionated radiotherapy can stabilize tumor growth and offer symptom relief. However, radiation therapy does not typically offer a curative approach compared to surgery but may be beneficial in controlling locally advanced or recurrent disease [7,8,11].

Long-term follow-up is indispensable in managing CBTs due to their potential to recur and the possibility of developing additional paragangliomas. In this case, a structured follow-up protocol involving periodic imaging and clinical assessments was established to ensure early detection of any recurrence or new tumor formation [9,11]. In our case, surgical resection of the tumor mass was selected, yielding highly favorable outcomes thereafter.

4 Conclusion

In summary, this case underscores the significance of taking into account familial medical history and performing comprehensive diagnostic assessments for patients presenting with unusual swellings. The effective multidisciplinary treatment of the carotid body tumor highlights the importance of early detection and suitable therapeutic measures. This study emphasizes the need for a comprehensive strategy in managing this uncommon neoplasm.

5 Methods

The work has been reported in line with the SCARE criteria [13].

Consent for publication

Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Ethical approval

Ethics approval is not required for case reports deemed not to constitute research at our institution (Hama University).

Funding

Not applicable.

Author contribution

M.S. wrote a part of the manuscript.

M.A. wrote a part of the manuscript.

H.A. wrote a part of the manuscript.

S.M. wrote a part of the manuscript.

A.K. wrote a part of the manuscript.

M.Alj. wrote a part of the manuscript.

All authors approved the final manuscript.

Guarantor

Mouhammed Sleiay.

Research registration number

Not applicable because our article is case report.

Conflict of interest statement

No conflict of interest.

Data availability statement

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Acknowledgments

We hope to thank SMSR Team Lab. for their efforts and bringing our team together.
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