title: Variegate porphyria complicated by systemic AA amyloidosis: a case report.
abstract: We report a Japanese woman with variegate porphyria accompanied by amyloid A (AA) amyloidosis. Arthropathy involving multiple joints occurred at 35 years old and persisted. C-reactive protein was 4.0 mg/dL, but rheumatoid factor was negative. Radiographs did not reveal any loss or narrowing of the joint spaces. Two years later, blister formation after sun exposure and reddish urine were first noted. At the age of 45 years, she developed abdominal pain, nausea, vomiting and seizures. After administration of phenobarbital, reddish urine was noted and muscular weakness progressed to atonic quadraparesis. Porphyria attack was diagnosed from high urinary levels of ∂ aminolevulinic acid and porphobilinogen. At the age of 47 years, hemodialysis was started. At the age of 49 years, progression of her gastrointestinal event resulted in death. Autopsy showed massive deposits of AA amyloidosis in various organs, including the kidneys and digestive tract. Thus, amyloid deposition may have contributed to both end-stage renal failure and her gastrointestinal symptoms. This is the first report about the coexistence of porphyria and AA amyloidosis. Chronic inflammation related to this patient's seronegative arthropathy, although atypical for porphyria, might have contributed to the development of AA amyloidosis.
authors.affiliation: Nephrology Center, Toranomon Hospital , Tokyo , Japan .
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Tsuchiya
authors.forename: Junichi
authors.initials: J
authors.lastname: Hoshino
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Suwabe
authors.forename: Keiichi
authors.initials: K
authors.lastname: Sumida
authors.forename: Rikako
authors.initials: R
authors.lastname: Hiramatsu
authors.forename: Koki
authors.initials: K
authors.lastname: Mise
authors.forename: Eiko
authors.initials: E
authors.lastname: Hasegawa
authors.forename: Masayuki
authors.initials: M
authors.lastname: Yamanouchi
authors.forename: Noriko
authors.initials: N
authors.lastname: Hayami
authors.forename: Naoki
authors.initials: N
authors.lastname: Sawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Arizono
authors.forename: Shigeko
authors.initials: S
authors.lastname: Hara
authors.forename: Kenmei
authors.initials: K
authors.lastname: Takaichi
authors.forename: Takeshi
authors.initials: T
authors.lastname: Fujii
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Ubara
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000150:complications*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D000075363:Immunoglobulin Light-chain Amyloidosis; D007676:Kidney Failure, Chronic / Q000150:complications; D046350:Porphyria, Variegate / Q000175:diagnosis*; D000685:Serum Amyloid A Protein / Q000378:metabolism
chemical_list: D000685:Serum Amyloid A Protein