Porphyria: Symptoms, Variations, and Long-Term Outlook

Porphyria is a group of rare blood disorders that prevent your body from producing an important component of hemoglobin. There is no cure, but early diagnosis is key to successful treatment. Learn everything you need to know about managing porphyria here.

7 minute read

Last Updated July 15, 2020

Porphyria: Symptoms, Variations, and Long-Term Outlook

Porphyria is a group of rare blood disorders that are inherited. These disorders prevent your body from producing heme, which is a component of hemoglobin. Hemoglobin is a protein in your blood that carries oxygen, and without it, oxygen cannot be effectively moved through the body. 

People with porphyria lack the enzymes needed to make heme, which causes the compound heme is made from (porphyrin) to accumulate in the blood, causing several health problems. 

What Causes Porphyria?

Porphyria is a genetic disease, with most cases being autosomal dominant. This means only one person needs to have the gene to develop the condition. Once you have the condition, there are several factors known to cause attacks. These include:

♦ Sunlight
♦ Alcohol use
♦ Drug use
♦ Infections
♦ Hormones such as estrogen

Porphyria Symptoms

The symptoms depend on which type of porphyria you have. Severe abdominal pain occurs with all types as well as urine that is a reddish-brown color, which is caused by excess porphyrins. 

Symptoms that come with hepatic versions of the disorder include:

♦ Limb pain
♦ Tachycardia
♦ Electrolyte imbalance
Tachycardia (fast heartbeat)
Hypertension

Symptoms associated with erythropoietic versions include:

♦ Extreme sensitivity to light (especially of the skin)
♦ Anemia
♦ Changes in skin pigmentation
♦ Erratic behavior related to sun exposure

Without prompt treatment and sticking to a treatment program, the risk for serious complications such as coma, gallstones, respiratory failure, paralysis, and liver failure increases significantly.

Porphyria Diagnosis

Your doctor uses several tests to diagnose porphyria. Tests such as CT scans, chest x-rays, and echocardiograms are used to look for physical problems. Blood counts and urine tests are used to look for blood-related issues. 

Depending on which type of porphyria you have and the severity of the symptoms, a combination of any of these tests will be used to accurately diagnose the condition and rule out other possible causes. 

Porphyria Treatment

There is no cure for porphyria, so treatment has to focus on managing the symptoms so you can live comfortably. Medications are the typical treatment, and these will vary according to which type of porphyria you have. 

Treatments for hepatic versions of the disease include:

♦ Beta blockers to manage blood pressure
♦ Opioids for pain management

Treatments for erythropoietic versions of the disease include:

♦ Bone marrow transplant
♦ Iron supplements
♦ Blood transfusions

Porphyria Diet

A balanced diet full of nutrition is recommended for those with porphyria. There is little food that needs to be avoided. 

For acute porphyria, low-calorie diets are recommended to help reduce weight, and some foods should be avoided if they are known to trigger attacks. It is also important to eat three regular meals a day. If nausea is a problem for you, eating smaller meals more often will help prevent this and can relieve stomach pains as well. 

If you are experiencing constipation, then eating smaller meals will help you as well as drinking more water each day. You should also add more fiber to your diet by eating more fresh fruits and vegetables

Alcohol has been known to trigger attacks, so it is strongly advised to limit consumption. Individuals with EPP need to avoid alcohol completely, as they are likely to develop liver problems that could be made worse by alcohol.

Natural Treatments for Porphyria

There is no natural treatment for the condition itself, but there are natural options you can try that will alleviate symptoms associated with porphyria. 

♦ Ginger is ideal for relieving nausea and stomach pains and can be added to meals or enjoyed as a tea with honey.

♦ Basil leaves in hot water act as a tranquilizer, calming the nervous system to prevent inflammation and pain.

♦ Fresh pineapple (which contains the enzyme bromelain) helps to digest proteins and can speed up digestion, alleviating constipation.

Keeping a food diary is recommended to help you identify foods that trigger attacks or make you feel bad. Any foods that you have a sensitivity towards should automatically be avoided to keep inflammatory attacks low. 

What Are the Variations of Porphyria?

There are two categories of porphyria. Hepatic forms of the condition are caused by problems in the liver, and erythropoietic form is linked to light sensitivity. 

The five types of hepatic porphyria include:

1. Acute intermittent (AIP): This version is characterized by partial deficiency of the enzymes, which causes accumulation of porphyrin.

2. Hereditary coproporphyria (HCP): This is classified by a heme biosynthesis problem that is inherited in an autosomal dominant fashion.

3. Variegate porphyria: This occurs when there are low levels of enzymes that help in heme production. This can be acute or chronic with symptoms primarily affecting the skin.

4. Aminolevulinic acid dehydratase deficiency (AVADDP): This is an acute disorder resulting from a severe deficiency in the ALA dehydrase enzyme.

5. Porphyria Cutanea Tarda (PCT): This version affects the skin, and it is characterized by extreme photosensitivity and blistering lesions on sun-exposed skin.

Porphyria Statistics

♦ The prevalence of porphyria is not known, but it is thought that the range is between 1 in 500 to 1 in 50,000 across the world.

♦ 1 in 25,000 Caucasians has Porphyria Cutanea Tarda (it is uncommon among African Americans).

♦ Congenital Erythropoietic Porphyria is a very rare condition with fewer than 300 cases ever being reported.

♦ Acute Intermittent Porphyria is mostly found in carriers that never develop symptoms, and it is very rare.

Porphyria and Children

Acute attacks of porphyria are rare in children but can occur. EEP (erythropoietic protoporphyria) has its onset in childhood, unlike the other versions. Symptoms appear after exposure to the sun and will subside after a few days. 

Diagnosis for this condition is easily missed if the child is not in the sun a great deal. DNA testing is advised as a way to prevent children from being born with porphyria.

What Is the Long-Term Outlook?

The long-term outlook for porphyria varies greatly depending on the type you have and treatment. In many cases, patients do not begin treatment until after serious damage has already been done. Identifying symptoms and early diagnosis is the key to successful treatments. 

While there is no cure, porphyria can be treated and managed, and you can reduce the risk of serious health complications and live a normal life.

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