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Amyloidosis of the Upper Aerodigestive Tract: Management of a Rare Disease and Review of the Literature

Abstract

Amyloidosis in the upper aerodigestive tract is a very rare disease with mainly case reports documented so far. In the pathogenesis, amyloid protein fibers are deposited in organs and tissue. In the upper aerodigestive tract, mostly localized amyloidosis occurs with unspecific symptoms, e.g., dysphagia. We conducted a retrospective multicenter study with two study centers in Germany (tertiary referral hospitals), the University Hospital of Bonn and the University Hospital of Goettingen. For a period of the last 7 years, data were analyzed and patients were recruited consecutively. 14 cases were included to the study. The most common manifestation was in the larynx (n = 11); in one case each localized amyloidosis was found in the tongue, trachea and in the pharynx. Since the majority of our cases (n = 13; 92.6%) presented with unspecific symptoms, biopsy results confirmed the diagnosis of localized amyloidosis. Resection of the lesion was only performed in patients reporting of symptoms, in asymptomatic patients only a non-invasive biopsy was done. In two patients (14.2%), in addition to the focal lesion a systemic amyloidosis was found. Amyloidosis in the upper aerodigestive tract is a rare disease. Nonetheless, every otorhinolaryngologist should be aware of this disease. When detected it is a straight forward to treat illness. The appearance of a systemic amyloidosis needs to be ruled out; thus, there is a chance to develop a multiple myeloma. Given the slow progressive character of amyloidosis, a long-term follow-up up to 10 years is inevitable.

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Abbreviations

AL:

Amyloid light chain

CO2 :

Carbon dioxide

CT:

Computed tomography

ECG:

Echocardiography

F:

Female

KTP:

Potassium titanyl phosphate

M:

Male

MLS:

Microlaryngoscopy

MRI:

Magnetic resonance imaging

NI:

No information

RBC:

Red blood count

SAA:

Serum amyloid A protein

SAP:

Serum amyloid P protein

TTR:

Transthyretin

UKB:

University Hospital of Bonn

UMG:

University Hospital of Goettingen

WBC:

White blood count

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Acknowledgements

The authors would like to thank Thore Thiesler, MD (Department of Pathology, UKB Bonn, Germany) and Julia Kitz, MD (Department of Pathology, UMG Goettingen, Germany) for performing the histological examination.

Author information

TS collected data, wrote parts of the manuscript. JS collected and analyzed data and wrote the manuscript. GS, AP, and AO recruited and examined the patients, provided graphical material and proof read the manuscript. FB and MC analyzed data and proof read the manuscript. MJ initiated the project, collected data and wrote parts of the manuscript.

Correspondence to Mark Jakob.

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Send, T., Spiegel, J.L., Schade, G. et al. Amyloidosis of the Upper Aerodigestive Tract: Management of a Rare Disease and Review of the Literature. Dysphagia 34, 179–191 (2019). https://doi.org/10.1007/s00455-018-9956-x

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Keywords

  • Amyloidosis
  • Upper aerodigestive tract
  • Dysphagia
  • Deglutition
  • Deglutition disorder
  • Demographics