Amyloidosis, a frequently missed diagnosis

Fernando Peixoto Ferraz de Campos, Médico – Editor chefe Autopsy and Case Reports, Hospital Universitário – USP, São Paulo, SP, Brasil.

The first descriptions of Amyloidosis started in the 1700-pages treatise by the Genovese physician Theophile Bonet (Genovese Physician, 1620-1689) entitled “Sepulchretum sive Anatomica Practica”. In the XVIII century, British authors described the hepatic enlargement by infiltration of a dull white, ash-colored, dull yellow resembling the beeswax color and mucoid substance, chiefly observed when the patient died from other affection, like phthisis. In 1842, Karl von Rokitansky (1804-1878) described the waxy and the bacony conditions of the liver (the latter, has been adopted in English under the denomination “lardaceous”). The initial conclusions on the lardaceous disease of the liver made by Dr. Hughes Bennet and Dr. Rokitansky considered it as an ultimate form of fatty alteration of the liver. However, in the mid of the XIX century, Rudolph Virchow defined the waxy change found in amyloidosis and described its reaction with iodine and sulfuric acid, which were markers for starch, hence the term amyloid or starch-like.

The history of this disease is entirely based on the description of the autopsy findings, illustrating the wealth of data provided by the post-mortem examination.

In the article “Autopsy findings in a patient with primary systemic AL (kappa light chain) amyloidosis” (Autops. Case Rep. 11_2021), Dr. Ledesma and Dr. Castelli described a bunch of findings in a Primary Amyloidosis autopsy case, and the fine research to classify the index case as a Primary AL amyloidosis. The disclosure of the diagnosis by the autopsy, in this case, is of crucial importance for the physicians who could not understand the treatment failure directed to their patient.

Image: Photomicrographs of the thyroid: extensive amorphous hyaline material deposition in the interstitium causing marked follicular atrophy. The Congo red staining was strongly positive (H&E, 200X, and Congo red 100X respectively). Pictures provided by Dr Ledesma, authorized by the deceased’s next of kin. Copyright © 2020 The Author(s). This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Currently, many physicians worldwide, neglect the value of autopsies believing most diagnoses are expected to be facilitated by the outstanding booming of the diagnostic methods. However, Dr. Ledesma precisely illustrates and with property, the opposite. The richness of the images in this report is worthy of an atlas of pathology. A well- known disease had its diagnosis missed in the context of a multiorgan involvement and in a very advanced stage at presentation.

This publication is in line with the thinking of the Autopsy and Case Reports (A&CR) editorial board, showing that autopsy is essential for accurate diagnosis and that many discrepancies between clinical and autopsy diagnoses are still present in many cases.

References

KYLE, R. A. Amyloidodis: a convoluted story. British journal of Haematology [online]. 2001, vol.114, no.03, pp. 529-38 [viewed 09 June 2021]. https://doi.org/10.1046/j.1365-2141.2001.02999.x. Available from: https://onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.2001.02999.x

JAMA. Theophile Bonet (1620-1689) Physician of Geneva. The journal of the American Medical Association [online]. 1969, vol.210, no.05, pp.899 [viewed 09 June 2021]. https://doi.org/10.1001/jama.1969.03160310087021. Available from: https://jamanetwork.com/journals/jama/article-abstract/349619

DOYLE, L. Lardaceous disease: some early reports by British authors (1722-1879). Journal of the Royal Society of Medicine [online]. 1988, vol.81, pp.729-731 [viewed 09 June 2021]. https://doi.org/10.1177/014107688808101217. Available from: https://journals.sagepub.com/doi/10.1177/014107688808101217

WAINEWRIGHT, J. An anatomical treatise of the liver, with the diseases incident to it. London: Gale Ecco, 1722.

CARSWELL,  R. Pathological anatomy: illustrations of the elementary forms of disease. London: Longman, Orme, Brown, Green and Longman, 1837.

GAIRDNER, W. T. Waxy or Lardaceous disease. Br Med J [online]. 1879, vol.1, no.585 [viewed 09 June 2021]. https://doi.org/10.1136/bmj.1.955.585. Available from: https://www.bmj.com/content/1/955/585

To read the article, acess

LEDESMA, F. L. and CASTELLI, J. B. Autopsy findings in a patient with primary systemic AL (kappa light chain) amyloidosis. Autopsy and Case Reports [online]. 2021, vol. 11, e2021273 [viewed 09 June 2021]. https://doi.org/10.4322/acr.2021.273v. Available from: http://ref.scielo.org/7cb7pz

External links

Autopsy and Case Reports – ACREP: https://www.scielo.br/acrep