DOI: 10.12890/2022_003118

Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis

Authors

  • Marcia Agostinho Pereira Serviço de Medicina 2.3, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal
  • Madalena Monjardino Lobão Serviço de Medicina 2.3, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal
  • Antonio Mesquita Serviço de Medicina 2.3, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal
  • Miguel Martins Serviço de Medicina 2.3, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal
  • Rita Ribeiro Serviço de Medicina 2.3, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal

pereiramed@gmail.com

Keywords

Hereditary, amyloidosis, transthyretin, scleroderma, polyneuropathy

Abstract

We present the case of a 53-year-old woman of Portuguese ancestry with a diagnosis of progressive systemic sclerosis (SSc), proposed for haematopoietic stem cell transplantation (HSCT). Clinical re-evaluation when assessing eligibility for the procedure led to the alternative diagnosis of familial amyloid polyneuropathy (FAP). We discuss the clinical presentations of FAP and SSc, focusing on their overlapping and distinguishing features. We emphasize the need for a high level of suspicion in order to establish an early diagnosis of FAP in the absence of a family history, and provide prognostic and genetic counselling.

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References

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  2. Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.J Neurol 2020;268:2109–2122.
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Published

2022-01-18

Issue

Vol. 9 No. 1 (2022)

How to Cite

1.
Agostinho Pereira M, Monjardino Lobão M, Mesquita A, Martins M, Ribeiro R. Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis . EJCRIM [Internet]. 2022 Jan. 18 [cited 2026 Nov. 3];9(1). Available from: https://ejcrim.com/index.php/ejcrim/article/view/3118

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