Hepatic Porphyria
Overview
Porphyrins are pigments made by the liver and other tissues. They are involved in the formation of many important substances in the body, such as hemoglobin, which carries oxygen in the blood.
Many genes are involved in the production of porphyrins. If one of these genes is mutated, hepatic porphyria may occur, resulting in an abnormal increase of pigments in the body. There are two types of porphyria: cutaneous and acute.
Genetic porphyria often is "silent," meaning that the genetic change causes symptoms only in the presence of certain environmental triggers, such as alcohol consumption, inadequate diet and certain medications – especially sedatives related to barbiturates, anti-seizure drugs and oral contraceptives. Excess iron and estrogen play a role in some patients, and there also is a frequent association with hepatitis C liver disease.
Our approach to hepatic porphyria
UCSF's dedicated team of hepatologists delivers cutting-edge, compassionate care for all kinds of liver disorders, including hepatic porphyria. Treatment for hepatic porphyria focuses on avoiding triggers – such as alcohol consumption or too much iron in the body – that lead to symptoms.
Patients with excess iron may need to have set amounts of blood withdrawn at regular intervals. Over time, this lowers iron to normal levels and decreases symptoms such as sun sensitivity.
Awards & recognition
-
Among the top hospitals in the nation
-
One of the nation's best for gastroenterology & GI surgery
Signs & symptoms
Symptoms vary depending on the type of porphyria, but some of the more common include:
- Dark urine
- Skin sensitivity, including blistering, of areas exposed to the light, such as the face and back of hands
- Pain in the abdomen
- Nausea
- Seizures
Diagnosis
In making a diagnosis of hepatic porphyria, your doctor will start by conducting a thorough physical examination and asking about your medical history, including any symptoms you have been experiencing. In addition, laboratory testing of your urine, blood and feces will be conducted to make a definite diagnosis.
Treatments
Treatment for hepatic porphyria depends on the type. However, for both cutaneous and acute porphyria, the first step of therapy involves identifying and eliminating the precipitating factors, such as alcohol, certain medication or excess iron.
Cutaneous porphyria
For patients with cutaneous porphyria whose iron levels are high, iron depletion is recommended. This involves removing the excess iron from the body by drawing your blood, usually a pint at a time in regular intervals. This is done in the same way in which blood is drawn from donors at blood banks.
When the body replenishes the blood, it draws iron from storage sites such as the liver. Repeated over time, this process eventually eliminates the excess iron and leads to reduced porphyrin levels and improved sun tolerance.
Acute porphyria
The best form of treatment for acute porphyria is prevention. Therefore, your family members should be tested, to identify those who are also at risk of having an acute attack.
When acute porphyria progresses despite elimination of triggering factors, hospitalization is necessary. Specific treatment involves administration of intravenous hematin, which compensates for the genetic deficiency.
UCSF Health medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.
