Clinical Diagnosis of Acute Porphyria

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

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.