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PMID- 25016127
OWN - NLM
STAT- MEDLINE
DA  - 20141208
DCOM- 20150204
LR  - 20161215
IS  - 1555-7162 (Electronic)
IS  - 0002-9343 (Linking)
VI  - 127
IP  - 12
DP  - 2014 Dec
TI  - Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium.
PG  - 1233-41
LID - 10.1016/j.amjmed.2014.06.036 [doi]
LID - S0002-9343(14)00577-4 [pii]
AB  - BACKGROUND: Recent descriptions of the clinical and laboratory features of
      subjects with acute porphyrias in the US are lacking. Our aim was to describe
      clinical, biochemical, and genetic features of 108 subjects. METHODS: Between
      September 2010 and December 2012, 108 subjects with acute porphyrias (90 acute
      intermittent porphyrias, 9 hereditary coproporphyrias, 9 variegate porphyrias)
      were enrolled into an observational study. Genetic testing was performed at a
      central genetic testing laboratory and clinical information entered into a
      central database. Selected features were compared with data for adults in the US.
      RESULTS: Most subjects (88/108, 81%) were female, with self-reported onset of
      symptoms in the second through fourth decades of life. The most common symptom
      was abdominal pain. Appendectomies and cholecystectomies were common before a
      diagnosis of porphyria. The diagnosis was delayed by a mean of 15 years. Anxiety 
      and depression were common, and 18% complained of chronic symptoms, especially
      neuropathic and other pains. The incidences of systemic arterial hypertension,
      chronic kidney disease, seizure disorders, and psychiatric conditions were
      markedly increased. Mutations of the known causative genes were found in 102/105 
      of those tested, with novel mutations being found in 37, including in 7/8
      subjects with hereditary coproporphyria. Therapy with intravenous hematin was the
      most effective therapy both for treatment of acute attacks and for prevention of 
      recurrent attacks. CONCLUSIONS: Acute porphyrias often remain undiagnosed for
      more than a decade after first symptoms develop. Intravenous hematin is the
      treatment of choice, both for treatment of acute attacks and for prevention of
      recurrent attacks.
CI  - Copyright (c) 2014 Elsevier Inc. All rights reserved.
FAU - Bonkovsky, Herbert L
AU  - Bonkovsky HL
AD  - The Liver-Biliary-Pancreatic Center, Carolinas HealthCare System, Charlotte, NC; 
      Department of Medicine, Carolinas HealthCare System, Charlotte, NC; Department of
      Research, Carolinas HealthCare System, Charlotte, NC. Electronic address:
      hbon[email protected]
FAU - Maddukuri, Vinaya C
AU  - Maddukuri VC
AD  - The Liver-Biliary-Pancreatic Center, Carolinas HealthCare System, Charlotte, NC; 
      Department of Medicine, Carolinas HealthCare System, Charlotte, NC; Department of
      Research, Carolinas HealthCare System, Charlotte, NC.
FAU - Yazici, Cemal
AU  - Yazici C
AD  - The Liver-Biliary-Pancreatic Center, Carolinas HealthCare System, Charlotte, NC; 
      Department of Medicine, Carolinas HealthCare System, Charlotte, NC; Department of
      Research, Carolinas HealthCare System, Charlotte, NC.
FAU - Anderson, Karl E
AU  - Anderson KE
AD  - Department of Preventive Medicine and Community Health, University of Texas
      Medical Branch, Galveston.
FAU - Bissell, D Montgomery
AU  - Bissell DM
AD  - Department of Medicine, University of California, San Francisco.
FAU - Bloomer, Joseph R
AU  - Bloomer JR
AD  - Department of Medicine, University of Alabama, Birmingham.
FAU - Phillips, John D
AU  - Phillips JD
AD  - Department of Medicine, University of Utah School of Medicine, Salt Lake City.
FAU - Naik, Hetanshi
AU  - Naik H
AD  - Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount
      Sinai, New York, NY.
FAU - Peter, Inga
AU  - Peter I
AD  - Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount
      Sinai, New York, NY.
FAU - Baillargeon, Gwen
AU  - Baillargeon G
AD  - Department of Preventive Medicine and Community Health, University of Texas
      Medical Branch, Galveston.
FAU - Bossi, Krista
AU  - Bossi K
AD  - Department of Research, Carolinas HealthCare System, Charlotte, NC.
FAU - Gandolfo, Laura
AU  - Gandolfo L
AD  - University of South Florida, Tampa.
FAU - Light, Carrie
AU  - Light C
AD  - University of South Florida, Tampa.
FAU - Bishop, David
AU  - Bishop D
AD  - Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount
      Sinai, New York, NY.
FAU - Desnick, Robert J
AU  - Desnick RJ
AD  - Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount
      Sinai, New York, NY.
LA  - eng
SI  - ClinicalTrials.gov/NCT01561157
GR  - P30 DK026743/DK/NIDDK NIH HHS/United States
GR  - R15 HL117199/HL/NHLBI NIH HHS/United States
GR  - U54 DK083909/DK/NIDDK NIH HHS/United States
GR  - HL117199/HL/NHLBI NIH HHS/United States
PT  - Journal Article
PT  - Observational Study
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20140710
PL  - United States
TA  - Am J Med
JT  - The American journal of medicine
JID - 0267200
SB  - AIM
SB  - IM
MH  - Adult
MH  - Anxiety/epidemiology
MH  - Coproporphyria, Hereditary/diagnosis/*epidemiology/genetics
MH  - Delayed Diagnosis
MH  - Depression/epidemiology
MH  - Epilepsy/epidemiology
MH  - Female
MH  - Humans
MH  - Hypertension/epidemiology
MH  - Incidence
MH  - Male
MH  - Middle Aged
MH  - Neuralgia/epidemiology
MH  - Porphyria, Acute Intermittent/diagnosis/*epidemiology/genetics
MH  - Porphyria, Variegate/diagnosis/*epidemiology/genetics
MH  - Renal Insufficiency, Chronic/epidemiology
MH  - Sex Distribution
MH  - United States/epidemiology
MH  - Young Adult
PMC - PMC4563803
MID - NIHMS637096
OID - NLM: NIHMS637096
OID - NLM: PMC4563803
OTO - NOTNLM
OT  - Acute intermittent porphyria
OT  - Clinical features
OT  - Delta-aminolevulinic acid
OT  - Hematin
OT  - Heme
OT  - Hereditary coproporphyria
OT  - Hydroxymethylbilane synthase
OT  - Porphobilinogen
OT  - Porphobilinogen deaminase
OT  - Porphyrins
OT  - Variegate porphyria
EDAT- 2014/07/13 06:00
MHDA- 2015/02/05 06:00
CRDT- 2014/07/13 06:00
PHST- 2014/06/23 [received]
PHST- 2014/06/29 [revised]
PHST- 2014/06/30 [accepted]
AID - S0002-9343(14)00577-4 [pii]
AID - 10.1016/j.amjmed.2014.06.036 [doi]
PST - ppublish
SO  - Am J Med. 2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 
      Jul 10.