Familial amyloidotic polyneuropathy (ATTR Ser50Ile): the first autopsy case report |
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Authors: | N Sakashita Y Ando K Obayashi H Terazaki T Yamashita M Takei M Kinjo K Takahashi |
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Institution: | (1) Second Department of Pathology, Kumamoto University School of Medicine, 2-2-1 Honjo, Kumamoto 860-0811, Japan e-mail: naomi@kaiju.medic.kumamoto-u.ac.jp Tel.: +81-96-3735097, Fax: +81-96-3735096, JP;(2) First Department of Internal Medicine, Kumamoto University School of Medicine, Kumamoto, Japan, JP;(3) Department of Neurology, Kumamoto University School of Medicine, Kumamoto, Japan, JP;(4) Division of Urology, Hara-Sanshin Hospital, Fukuoka, Japan, JP;(5) First Department of Pathology, Ryukyu University School of Medicine, Okinawa, Japan, JP |
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Abstract: | We report an autopsy case of a pedigree of familial amyloidotic polyneuropathy (FAP) with a mutation of isoleucine-50 transthyretin
(ATTR Ser50Ile). A 47-year-old man started developing severe diarrhea and weight loss at age 41 years, followed by urinary
incontinence, autonomic-nervous-system abnormalities and serious heart failure; the diagnosis of FAP (ATTR Ser50Ile) was made
on the basis of genetic, histochemical and immunohistochemical analysis. Six years after the initial symptoms, he died of
septic shock. Autopsy revealed suppurative peritonitis, perforation of the sigmoid colon and marked systemic amyloid deposition.
The total amount of amyloid deposited in the heart was greatly increased and was much lower in the thyroid gland and kidneys
compared with amyloid deposits in ordinary FAP (ATTR Val30Met). Amyloid deposition in peripheral vessel walls was prominent,
particularly in lymphatics and veins. His elder sister, 54 years old, started to develop orthostatic hypotension at age 49
years, followed by dysesthesia, diarrhea and severe congestive heart failure. Endomyocardial biopsy revealed severe TTR–amyloid
deposition; ultrastructural examination demonstrated that amyloid fibrils were deposited disproportionately and extended radially
around microvessels. These characteristic patterns of systemic amyloid deposition and distinct clinical manifestations, especially
in the cardiovascular system, are considered to be a characteristic feature of ATTR Ser50Ile amyloidosis.
Received: 31 August 1999 / Accepted: 19 October 1999 |
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Keywords: | Amyloidosis ATTR Ser50Ile Autopsy Familial amyloidotic polyneuropathy Transthyretin |
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