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Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy

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Abstract

A 44-year-old Japanese man with elevated growth hormone levels and gradual deterioration of mental and renal function was admitted to the hospital. With his deteriorated general condition and renal failure, the patient developed pulmonary thromboembolism and died of respiratory failure. Autopsy examination was conducted, which revealed abnormal accumulation or intracytoplasmic storage of lipid-rich material in the small blood vessels, kidney, heart, and nervous system. After postmortem pathologic studies, including light-microscopic histochemistry, electron microscopy, and biochemical analysis of the stored lipid contents, a final diagnosis of Fabry disease was made. Histopathologic examination revealed a unique vasculopathy characterized by the presence of abnormal intracytoplasmic lipid inclusions and vascular remodeling. With regard to the clinical presentation of acromegaly, hyperplasia but not adenomatous transformation of the acidophils of the anterior pituitary gland with immunohistochemical detection of growth hormone within the cells was noted. In this case, the complication of acromegaly with hyperplasia of the acidophilic cells of the anterior pituitary gland and the unique vasculopathy causing significant organ failure, mainly of the kidney, heart, and central nervous systems, possibly as a result of microcirculatory failure, are considered to be not incidental findings but to be intimately involved in the pathogenesis of Farby disease.

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Acknowledgement

The authors would like to acknowledge the technical assistance of T. Nagai and K. Fujita with the electron microscopic studies, T. Kohno, M. Furihata, K. Nagawatari, A. Furusawa, and T. Oyama for their assistance with the immunohistochemical and conventional histologic studies, and the valuable discussions and help offered by Dr. J. Shiraishi.

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Correspondence to Kazuto Yamazaki.

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Takao, M., Mori, T., Orikasa, H. et al. Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. Virchows Arch 451, 721–727 (2007). https://doi.org/10.1007/s00428-007-0456-x

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Keywords

  • Fabry disease
  • Pituitary
  • Growth hormone
  • Microcirculation
  • Ceramide trihexoside