Clinical Diagnosis of Acute Porphyria

For Diseases:

  • Acute Intermittent Porphyria (AIP)
  • Hereditary Coproporphyria (HCP)
  • Variegate Porphyria (VP)


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 cutaneous symptoms. Acute porphyria is often difficult to diagnose because the symptoms of abdominal pain, nausea, vomiting, etc. are not specific to 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 whether first degree family members of patients with genetically-confirmed acute porphyria have symptoms and laboratory findings.
  • To devise a Genetic Carrier Profile that could be used to screen people in whom the diagnosis of porphyria is being considered.
  • To explain other possible causes of minor increases in porphyrin levels in patients with recurrent abdominal pain who have not been diagnosed with porphyria

This is a longitudinal study will consist of two parts.

Part 1: 100 people.
We will enroll individuals who are first-degree relatives (child, sibling, or parent) of a patient with a genetically-confirmed diagnosis of one of the acute porphyrias (called the index case). We are interested in all three types of acute porphyria: Acute Intermittent Porphyria (AIP), Hereditary Corproporphyria (HCP) or Variegate Porphyria (VP). Participants (the first-degree relatives) must not have had any genetic testing in the past. They will have a study visit during which they will complete a history questionnaire and have routine laboratory tests, including genetic testing for the acute porphyria mutation that is in their family. The researchers will use this data to develop a Clinical Profile of the risk factors associated with being a genetic carrier of acute porphyria.

Part 2: Not Yet Recruiting
Researchers will test the validity of the Clinical Profile. This part of the study will include subjects who are thought to possibly have acute porphyria, but do not have a confirmed.

Participation in Parts 1 and 2 of the study include one study visit with the following:

  • A physical exam
  • Answering questions about your health and quality of life
  • Donation of Giving samples for laboratory evaluations, including samples of blood, urine, and possibly stool
  • Donation of Giving a blood sample for genetic testing
  • Review of your medical records

Targeted Enrollment

To be eligible to participate in Part 1, you must:

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

To be eligible to participate in Part 2, you must:

  • 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, etc.
  • An increase in urinary, fecal or serum porphobilinogen (PBG) and/or porphyrins

In order to participate in a study, you must personally contact the study coordinator of the participating institution closest to you by phone or e-mail. Please use the information below to inquire about participation.


University of Alabama at Birmingham
Toni Seay, Coordinator
E-mail: or


University of California at San Francisco
Yuvraaj Kapoor
Phone: 415-476-8405

New York

Ichan School of Medicine at Mount Sinai, New York
Hetanshi Naik, Coordinator

North Carolina

Wake Forest School of Medicine, Winston-Salem
Dee Faust, Coordinator


University of Texas Medical Branch, Galveston
Csilla Hallberg, MD, Coordinator


University of Utah, Salt Lake City
Sharada Dixit, Study Coordinator