Acute Porphyria

GENERAL INFORMATION:

What is acute porphyria?

• Acute porphyria (por-FER-ee-ah), also called hepatic porphyria, is an inherited blood disorder where the body cannot break down certain chemicals. Normally, the liver makes many enzymes (chemicals) that break down substances, such as porphyrins and iron. Porphyrins are broken down by a liver enzyme that forms the pigment heme. Heme is a special protein that gives blood its red color and helps blood to carry oxygen.
  
  
• With acute porphyria, liver enzymes that are needed to make heme may not work correctly. They may be absent or present only in small amounts. Depending on the enzyme that is not working properly, certain precursors may build up or fail to form in the liver. Precursors are substances in the blood that act as building blocks and which make another substance. With acute porphyria, harmful precursors increase in the body and not enough heme is formed. These, in turn, cause frequent abdominal (stomach) pain and changes in the way you think or act. Some kinds of acute porphyria may cause the skin to over react to light. Diagnosing and treating acute porphyria as soon as possible may prevent further problems and improve your quality of life.

• Certain medicines, such as birth control pills, antibiotics, and medicines for treating seizures.
  
  
• Dehydration (loss of too much water and salt) or too much sun exposure.
  
  
• Cigarette smoking and drinking alcohol too much and too often. Alcohol is found in beer, wine, liquor (vodka and whiskey), or other adult drinks.
  
  
• Hormone changes, especially during pregnancy or a monthly period.
  
  
• Physical or mental stress, such as with an infection, depression, emotional problem, or after surgery.
  
  
• Starvation due to fasting or crash dieting.

• Body pain, especially in the arms, legs, back, chest, neck, or head.
  
  
• Changes in bowel movement (BM), such as constipation (dry, hard stools) or diarrhea (loose, watery stools).
  
  
• Dark or reddish urine or problems passing urine.
  
  
• Muscle weakness or muscle twitching.
  
  
• Problems thinking clearly, such as confusion, memory loss, or hallucinations.
  
  
• Seizures (convulsions) or vomiting (throwing up).
  
  
• Trouble breathing, fast heartbeat, or high blood pressure.

• Blood, urine, or stool tests: Samples of your blood, urine, or stool are collected and sent to a lab for tests. These will check the levels of your porphyrins. Caregivers may also learn more about your blood with these tests.
  
  
• Liver function tests: These blood tests check the enzymes and other substances made or broken down in the liver. Test results will tell caregivers how your liver is working.
  
  
• Skin biopsy: Your caregiver may need to remove a small sample of your skin. This skin tissue will then be sent to a lab for different tests. Ask your caregiver for more information if you need a skin biopsy.

• IV: An IV is a tube placed in your vein for giving medicine or liquids. This tube is capped or connected to tubing and liquid.
  
  
• Medicines: Caregivers may give you certain medicines to relieve your symptoms. These may include certain medicines to treat high blood pressure, seizures, pain, nausea, or vomiting. You may also need any of the following:
  
  
• Other treatments: You may also need any of the following:
  
  
  • Glucose: Glucose may be given if your attacks are triggered by a low-calorie or low-carbohydrate diet.
    
    
  • Hemin: Hemin, also called hematin, is an enzyme made from red blood cells (RBC). It works by telling the body to slow down the production of the precursors, or building blocks, that make heme.
    
    
  • Hormone: Women may be given hormones, such as birth control pills. This may help menstruating women avoid an acute porphyria attack. Ask your caregiver for more information about hormonal therapy.

• Avoid smoking cigarettes and drinking alcohol. Smoking and drinking alcohol increase the chances of making your acute porphyria worse. They may also damage the liver and further worsen your problems. Talk to your caregiver if you have trouble quitting smoking or drinking alcohol.
  
  
• Avoid stress: Try to decrease or avoid stress. Ask caregivers how you can learn to relax. Talk to your family, friends, or caregivers about things that upset you.
  
  
• Be careful with the medicines you are taking. Some medicines, including over-the-counter or prescribed medicines, may trigger an acute porphyria attack. Ask your caregiver first before using or taking any medicines, such as those used in treating seizures or pain.
  
  
• Eat a variety of healthy foods. These include fruits, vegetables, dairy products, bread, or other foods rich in carbohydrates. A good, well-balanced diet may help you feel better, have more energy, and heal faster. Ask your caregiver if you need to increase the amount of calories you take in each day.
  
  
• Have other family members checked for porphyria. Genetic screening may be done to confirm if other family members have porphyria. This will also give them more information on how to avoid an acute porphyria attack.

• American Porphyria Foundation
  4900 Woodway, Suite 780
  Houston, TX 77056
  Phone: 1-713-266
  Web Address: http://www.porphyriafoundation.com