There are four types of acute porphyrias:
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1 Acute porphyrias manifest as intermittent clinical presentations known as the acute porphyria attack. Failure to recognise an acute attack may lead to complications, and in some instances, can be genuinely life-threatening. Biochemically, the acute attack is marked by the production of large amounts of the porphyrin precursors, aminolevulinic acid (ALA) and porphobilinogen (PBG), which may be measured in plasma, urine and faeces. Symptomatically however, the acute attack can have varying presentations and is often mistaken for other more common disorders. There are four types of acute porphyrias: Acute Intermittent Porphyria (AIP) This is the most common type of porphyria. The symptoms of an AIP attack and their severity vary greatly but the skin is not often affected. Variegate Porphyria (VP) People with VP can experience both acute attacks and skin problems, not necessarily at the same time. Hereditary Coproporphyria (HCP) People with HCP can have acute attacks and may also experience skin problems. Aminolevulinate Dehydratase (ALAD) Deficiency Porphyria (ADP) This type of porphyria is sometimes called plumboporphyria and is extremely rare. People who have ADP can experience symptoms similar to people who have AIP.
2 Do you have any of the following symptoms? Nausea Vomiting Constipation Pain in the back, arms and legs Muscle weakness Numbness in the arms and legs Urinary retention Palpitations Increased blood pressure Confusions Hallucinations Seizures Does any of the following trigger the above symptoms? Some medications Alcohol A low calorie diet or fasting Hormonal changes, i.e. menstruation for women Pregnancy Stress Infection Smoking Illicit drug use If you have ticked yes to some of the symptoms and triggers, it is recommended that you consult your doctor and be tested for acute porphyria in order to accept or reject a diagnosis. Please print your answers to the above questions and provide these results to your doctor for review.
3 Testing for acute porphyria A quantitative analysis of urine, faecal and blood porphyrin levels must be tested in order to reject or accept a diagnosis of acute porphyria. It is essential all three tests are conducted as some types of acute porphyrias, such as hereditary coproporhyria, may be missed when analysing urine porphyrin levels alone. It is essential that the urine, faecal and blood samples be sent to a porphyria testing lab for accurate readings (see full details of state based specialist porphyria testing centres below). Following a positive diagnosis of acute porphyria, a management plan should be developed in consultation with your physician in order to promptly and effectively handle a future porphyria attack. For your doctor: Further information about acute porphyria can be found at
4 Testing Centres in Australia NSW Dr Victor Poulos and A/Prof Peter Stewart NSW Porphyria Reference Unit Biochemistry Department, ROYAL PRINCE ALFRED HOSPTAL Missenden Rd Camperdown NSW 2050 Phone (61-2) Fax (61-2) Website VIC Porphyrin Reference Laboratory Biochemistry Department ROYAL MELBOURNE HOSPTAL Cnr Grattan Street and Royal Parade Parkville VIC 3050 Phone (61-3) SA John Zoanetti Senior Medical Scientist, Department of Genetic Medicine WOMEN S AND CHILDREN S HOSPITAL 72 King William Road North Adelaide SA 5006 Phone (61-8) Fax (61-8) Website
5 WA Dr Ric Rossi PATHWEST Locked Bag 2009 Nedlands WA 6909 Phone (61-8) Fax (61-8)
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P Account# PATIENT REGISTRATION Please answer all questions completely. PAYMENT IS EXPECTED WHEN SERVICES ARE RENDERED Date New Update Name Date of Birth Male Last First Middle Female Home Address City/State/Zip
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DNA CENTER New Patient Information Name Email: Address City State Zip Home Phone Work Cell Phone Social Security Number Date of birth Gender ( Male/Female) Age Please Circle: Hispanic/Latin or Non Hispanic/Latin
More informationPlease answer all questions in blue or black ink by filling in the blank or circling. SOCIAL HISTORY
PATIENT QUESTIONNAIRE / ASSESSMENT Endocrinology Form Please answer all questions in blue or black ink by filling in the blank or circling. SOCIAL HISTORY Date Phone (H) (W) (C) Age Male Female Marital
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