Porphyria is a group of disorders. The all lead to a build up of porphyrins in the body. Porphyrins help to make a part of the red blood cell. However, excess amounts of porphyrins can cause damage to your body. It most often affects the nervous system and skin.
Some porphyria disorders include:
Acute Intermittent PorphyriaPorphyria Cutanea TardaErythropoietic ProtoporphyriaCongenital Erythropoietic Protoporphyria—present from birthMost types of porphyrias are inherited through genes. They may be passed on by one or both parents.
Factors that may increase you chance of porphyria include:
Having a family member with this disease—most common riskCaucasians are at greater risk than Blacks or AsiansSex: female (related to the menstrual cycle)Porphyria attacks may be triggered by:
DrugsInfectionsAlcohol consumptionDietingSmokingStressSome types of porphyria start in early childhood, some at puberty, and others during adulthood. Attacks may be separated by long periods of time.
Porphyria can cause skin or nervous system problems. Urine may also be reddish in color or darken after standing in the light. Other specific symptoms will depend on the type of porphyria.
Nervous system symptoms occur most often after puberty. Nerves of the intestines can cause gastrointestinal problems. Attacks can last from days to weeks. Symptoms of future attacks resemble the initial episode and may include:
Abdominal pain and crampingNausea and vomitingConstipationPain in limbs, head, neck, or chestImpaired movementRapid heart rateBreathing problemsSeizuresPainful urination or urinary retention
Mental symptoms such as:
Behavioral changesHallucinationsDepressionAnxietyInsomniaConfusionPsychotic episodesThis is the most common porphyria. Most are not inherited. They are acquired at some point.
Symptoms are primarily in the skin and increase with sun exposure. Symptoms may include:
Fragile skin—minor injury may damage the skinBlisters on the face, hands, arms, feet, and legsSkin thickens and scarsSkin color changesRed, pink, or brown urine particularly after sun exposureSkin symptoms may occur before or during sun exposure. Symptoms include:
Redness or swelling, but usually no blistersItching or burning sensationLong-term skin and nail changesThis form is extremely rare.
Symptoms may include:
Reddish urine, in infancySun sensitivity, beginning in early infancySun-exposed skin is fragile and may have blistersBlisters open and are prone to infectionSkin color may changeSkin thickensNail changes, ridging, or absence of nailReddish-brown teethThe doctor will ask about any symptoms. A medical and family history will be taken. A physical exam will also be done.
The symptoms can be very vague. As a result, the diagnosis is often delayed.
Tests differ for the various types. They may include blood, urine, and/or stool tests. These tests check for excess porphyrin or a specific missing enzyme. In some cases specific genetic testing may be available as well.
For all types of porphyria, treatment includes the following:
Avoiding known triggers and drugs that can precipitate an attackEating a high-carbohydrate dietPorphyria that affects the skin require special attention to protect the skin from injury and/or infection.
Additional treatment depends on the type of porphyria:
You may need to be hospitalized during an attack. Your doctor will work with you to determine what set off the attack. Common triggers include:
Drugs, such as:
BarbituratesSulfa drugsSeizure drugs
Steroid hormones such as:
EstrogenProgesteroneHormonal changes related to the menstrual cycleWeight-loss diets or fastingInfectionsAlcoholStressSurgeryCigarette smokeTreatment for acute intermittent porphyria may include:
Withdrawal or replacement of any medication suspected to be the causeMedication to reduce symptomsGlucose delivered by IVMonitoring and treatment for side effects like heart problems, breathing difficulties, and seizuresYour doctor may need to identify the triggers. Common triggers include:
IronAlcoholEstrogensHydrocarbonsCertain pesticides or chemicalsTreatment of porphyria cutanea tarda may include:
Avoiding:
Sun exposureAlcohol consumptionIron supplement and iron rich foodsBlood removal weekly to monthly to reduce porphyrins in bloodLow doses of antimalarial drugs may reduce symptoms in someAnnual doctor visits for liver monitoringPrimary step is to avoid or limit exposure to sunlight. Other
treatment steps may include:
Medications to increase light tolerance such as beta-caroteneMedication to help remove porphyrins from body
Treatment for complications:
Blood transfusion or removal of spleen for anemiaLiver transplantErythropoietic protoporphyria may also be triggered by dieting or fasting. Your doctor will discuss a healthy diet plan.
Primary step is to avoid or limit exposure to sunlight. Other
treatment steps may include:
Medications to increase light tolerance such as beta-caroteneSplenectomy —removal of the spleen to reduce need for blood transfusion for anemiaBone marrow transplantationGenetic testing may identify people at risk for porphyria. If there are people in your family with porphyria, you may be eligible for testing. The counselor will help find the risks for this disorder in you and your offspring.
Last reviewed November 2012 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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