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for people ages 15 years and up (full criteria)
at San Francisco, California and other locations
study started
estimated completion:



The purpose of this study is to test whether a focused questionnaire and laboratory tests can better define risk factors associated with possible genetic porphyria. The investigators hypothesize that the genetic carrier state of acute porphyria is distinctive enough that the Genetic Carrier Profile the investigators devise through this study will be useful in identifying carriers of genetic porphyria among the large population with undiagnosed abdominal pain.


The porphyrias are a group of genetic diseases caused by disturbances in the formation of heme, an essential component of hemoglobin and other proteins, leading to either acute (neurologic) and/or chronic (cutaneous) symptoms. Acute porphyria is often difficult to diagnose because symptoms may not be specific and, unless the patient is in an active attack, laboratory values typically may not be useful for diagnosing porphyria. The purpose of this study is to test whether a focused questionnaire and laboratory evaluation tool can better define risk factors associated with possible genetic porphyria. The goals of this study are:

  • To determine the presence and number of abnormal lab tests and porphyria-like symptoms in adult family members of the first person in a family who has been diagnosed with a disease of acute porphyria, 50% of whom are expected to carry the same genetic defect of the index case.
  • To devise a Genetic Carrie Profile that could be used to screen people in whom the diagnosis of porphyria is being considered.
  • To test the Profile in patients with symptoms suggestive of HCP and/or urine tests showing some elevation of porphyrins.
  • To explain other possible causes of minor increases in porphyrin levels in patients with recurrent abdominal pain who have not been diagnosed with porphyria


Hereditary Coproporphyria (HCP) Acute Intermittent Porphyria (AIP) Variegate Porphyria (VP) Porphyrias Porphyria, Erythropoietic Porphyria, Acute Intermittent Coproporphyria, Hereditary Porphyria, Variegate


For people ages 15 years and up

Group 1 Inclusion Criteria:

  • Be 15 years of age or older
  • Be a first-degree relative (child, sibling, parent, or grandparent) of an individual with genetically proven acute porphyria (AIP, HCP or VP)
  • Not have had any previous genetic testing for acute porphyria

Group 2 Inclusion Criteria:

  • Be 15 years of age or older
  • Have a history of suggestive clinical features, such as abdominal, back or limb pain,recurrent nausea lasting days, reaction to medications, psychiatric history, or sun sensitivity.
  • An increase in urinary, fecal or serum porphobilinogen (PBG) and/or porphyrins

Groups 1 and 2 Exclusion Criteria:

  • Have previously had genetic testing for acute porphyria
  • Have a history of "alarm" symptoms, such as anemia, unintentional weight loss, signs of GI (gastrointestinal) bleeding, or dysphagia (difficulty in swallowing).

Follow Up Sub-Study (Group 3) Inclusion Criteria:

  • Have been seen by one of the Porphyria Consortium physicians/investigators 10 or more years prior to study initiation
  • Had a slight increase in porphyrins during the initial visit
  • Not given a diagnosis of porphyria at the time of the visit

Follow Up Sub-Study (Group 3) Exclusion Criteria:

  • You have been seen by the Porphyria Consortium physician/investigator less than 10 years prior to study initiation.


  • UCSF Porphyria Center, University of California at San Francisco accepting new patients
    San Francisco, California, 94143, United States
  • Porphyria Center, University of Utah not yet accepting patients
    Salt Lake City, Utah, 84132, United States
  • UTMB Porphyria Center, University of Texas Medical Branch not yet accepting patients
    Galveston, Texas, 77555, United States
  • UAB Porphyria Center, University of Alabama at Birmingham not yet accepting patients
    Birmingham, Alabama, 35294, United States
  • Carolinas Medical Center and HealthCare System not yet accepting patients
    Charlotte, North Carolina, 28203, United States
  • Mount Sinai Porphyria Comprehensive Diagnostic & Treatment Center, Mount Sinai School of Medicine accepting new patients
    New York, New York, 10029, United States


accepting new patients
Start Date
Completion Date
University of California, San Francisco
The Porphyrias Consortium
Lead Scientist
D. Montgomery Bissell
Study Type
Last Updated
September 2013
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