Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy.

Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. Research Abstract Details 

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Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. Abstract Text:

Masaki Takao,Taisuke Mori,Hideki Orikasa,Haengphil Oh,Kinuko Suzuki,Atsuo Koto,Kazuto Yamazaki,Masaki Takao,Taisuke Mori,Hideki Orikasa,Haengphil Oh,Kinuko Suzuki,Atsuo Koto,Kazuto Yamazaki,Masaki Takao,Taisuke Mori,Hideki Orikasa,Haengphil Oh,Kinuko Suzuki,Atsuo Koto,Kazuto Yamazaki,

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.

Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. Publishing Authors By Initials

M Takao,T Mori,H Orikasa,H Oh,K Suzuki,A Koto,K Yamazaki,M Takao,T Mori,H Orikasa,H Oh,K Suzuki,A Koto,K Yamazaki,M Takao,T Mori,H Orikasa,H Oh,K Suzuki,A Koto,K Yamazaki,

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Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Virchows Archiv : an international journal of path

VOLUME: 451

Page Numbers: 721-7

Journal Abbreviation: Virchows Arch.

ISSN: 0945-6317

DAY: 12

MONTH: 07

YEAR: 2007

Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. Information

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LANGUAGE: eng

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Grant and Affiliation Information for Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy.

AFFILIATION: Department of Pathology, Saiseikai Central Hospital, l-4-17 Mita, Minato-ku, Tokyo, 108-0073, Japan, yamazaki@saichu.jp.

Country: Germany

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MEDLINETA: Virchows Arch

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