Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis
  • 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

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

  • Andrade, C. A peculiar form of peripheral neuropathy. Acta Psychiatr Neurol Scand 1951;26(3–4):251–257.
  • 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.
  • Johnson SR. New ACR EULAR guidelines for systemic sclerosis classification. Curr Rheumatol Rep 2015;17:1–8.
  • Lanoue J, Wei N, Gorevic P, Phelps RG. Cutaneous manifestations of familial transthyretin amyloid polyneuropathy. Am J Dermatopathol 2016;38:719–725.

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    Published: 2022-01-18
    Issue: 2022: Vol 9 No 1 (view)

    How to cite:
    1.
    Agostinho Pereira M, Monjardino Lobão M, Mesquita A, Martins M, Ribeiro R. Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis . EJCRIM 2022;9 doi:10.12890/2022_003118.