Familial Cancer

, Volume 18, Issue 1, pp 53–62 | Cite as

Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis

  • Jirat ChenbhanichEmail author
  • Amporn Atsawarungruangkit
  • Sira Korpaisarn
  • Tanit Phupitakphol
  • Soravis Osataphan
  • Prasit Phowthongkum
Original Article


Thyroid cancer (TC) is a known extra-intestinal manifestation and contributes to the mortality and morbidity in patients with familial adenomatous polyposis (FAP). Its exact prevalence is not well established and recent studies have shown an increasing number of TC in this patient population. The prevalence of benign thyroid masses and endocrinologic thyroid disorders are also poorly described. We conducted a systematic review and meta-analysis by using a random-effects model to characterize TC and estimated the prevalence of thyroid diseases in FAP patients. Twelve studies (n = 9821) were included. Pooled prevalence of TC, benign thyroid masses, and endocrinologic thyroid disorders in FAP were 2.6% [95% confidence interval (CI) 1.3–4.8], 48.8% [95% CI 33.8–64.0], and 6.9% [95% CI 4.5–10.3] respectively. Subgroup analyses revealed higher prevalence of TC in studies with fewer participants, studies that used screening ultrasound to diagnose TC, and studies that were published after 2002. TC diagnosis preceded the diagnosis of FAP in 34% of the patients. The means age at diagnosis of FAP and TC were 29 and 31 years, respectively. 95% of the patients were female and the most common pathology was of papillary subtype (83.3%). Most mutations (79.2%) were located at the 5′ end of APC gene. In summary, benign thyroid disorders are common in FAP, yet, TC is an uncommon phenomenon. Certain patient subset, such as young female with APC mutation at the 5′ end, might benefit from routine surveillance ultrasound.


Familial adenomatous polyposis Thyroid cancer Thyroid diseases 



We would like to express our gratitude to Marian MacMaster and Joan Yanicke, our lovely librarians at the Medical Library, Metrowest Medical Center, for checking the relevant search terms and helping us retrieve all the relevant articles.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

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Supplementary material 1 (DOCX 66 KB)
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Supplementary material 2 (DOCX 94 KB)
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Supplementary material 3 (DOCX 73 KB)
10689_2018_85_MOESM4_ESM.docx (97 kb)
Supplementary material 4 (DOCX 96 KB)


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Copyright information

© Springer Science+Business Media B.V., part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Internal MedicineMetroWest Medical CenterFraminghamUSA
  2. 2.Section of Endocrinology, Diabetes, Nutrition and Weight ManagementBoston Medical CenterBostonUSA
  3. 3.Research DivisionJoslin Diabetes CenterBostonUSA
  4. 4.Department of Pathology, Faculty of MedicineSrinakharinwirot UniversityBangkokThailand
  5. 5.Division of Medical Genetics and Genomics, Department of Medicine, Faculty of MedicineChulalongkorn UniversityBangkokThailand

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