A group of rare inherited diseases that lead to the build-up of porphyrins (natural chemicals) in the body is known as porphyria. These chemicals are required to produce heme (a part of hemoglobin). Red blood cells contain hemoglobin and it is responsible to carry oxygen to organs and tissues in the body. In addition, to change porphyrins in heme are needed 8 enzymes and without them, these porphyrins begin to build up in the body. When the level of porphyrins increases significantly, it may cause serious health problems (primarily in the nervous system and skin).
Acute porphyrias usually begin quickly and mainly impact the nervous system while cutaneous porphyrias affect the skin. Previous porphyria types are two general forms of porphyria. However, there are several types that negatively affect the nervous system and skin at the same time.
The symptoms usually appear differently among patients because it depends on the severity and type of the porphyria. This health problem passes from biological parents to biological children in most cases.
Unfortunately, there is no way to cure porphyria but with lifestyle changes and proper treatment, you can reduce the symptoms and improve the quality of life. In any case, the treatment also depends on the type and severity of the porphyria you experience.
Symptoms
The symptoms vary significantly among people. For instance, some people may experience severe symptoms while others have no symptoms at all. Check below some of them:
Acute Porphyrias
This type usually provokes nervous system symptoms. There are several forms that impact the skin. In those who suffer from these porphyrias, the symptoms appear suddenly and may be severe. The symptoms can last from hours to weeks. Acute intermittent porphyria (AIP) is one of the most common acute porphyrias. Check below some acute porphyrias symptoms:
- Severe abdominal, chest, leg, or back pain
- Digestive issues (including nausea, vomiting, constipation, and others)
- Muscle pain, numbness, paralysis, weakness, or tingling
- Red or brown urine
- Mental disorders (such as confusion, hallucinations, anxiety, and others)
- Trouble breathing
- Hypertension (high blood pressure)
- Seizures
Cutaneous Porphyrias
These porphyrias usually affect the skin which provokes sunlight sensitivity. Commonly, these porphyrias do not impact the nervous system. The most common form of cutaneous porphyrias is Porphyria cutanea tarda (PCT). If you experience this type of porphyrias and are exposed to the sun, you may notice the following symptoms. Examples include:
- Itching
- Increased hair growth in affected regions
- Red or brown urine
- Sudden skin redness, swelling, and pain
- Skin blisters that usually appear on the hands, arms, and face
- Sun sensitivity
A rare type of cutaneous porphyria (erythropoietic protoporphyria or EEP) causes painful skin swelling and irritation if you are exposed to sun or artificial light. Moreover, if you are exposed to the light repeatedly it may lead to thick, leathery skin and scarring.
There are different health conditions that provoke symptoms similar to porphyria. However, if you suspect you have this group of diseases, immediately contact your doctor because proper treatment is very important.
Causes
All porphyria forms involve problems with heme production. Despite the heme is a part of hemoglobin, it plays an important role in clearing medicines and hormones from the body. This natural chemical is produced by the bone marrow and it transforms into heme using certain enzymes. A porphyrin build-up occurs when even a small change in these enzymes occurs. The affected enzyme depends on the type of porphyria you experience.
Genetic Forms
Approximately all diagnosed cases are inherited from biological parents who carry this gene. However, if you inherit these mutated genes from your parents it does not mean you will have symptoms. In such cases, you just carry this mutated gene and it can pass to your biological children.
Acquired Forms
PCT type commonly not passes from parents to children but it is triggered by other causes. Examples include:
- Misuse of alcoholic drinks
- Smoking
- Hormonal changes
- Viral infections (such as hepatitis C, HIV infection, and others)
- Have increased iron levels in the body caused by hemochromatosis
Risk Factors
There are some environmental factors that also could trigger porphyria symptoms along with genetic ones. An increased heme production happens when you are exposed to these factors. Check below some triggers:
- Medicines (including sedatives, barbiturates, and birth control pills)
- Recreational drugs
- Smoking
- Physical stress (including diseases, infections, surgery, and others)
- Alcohol abuse
- Emotional stress
- Hormonal changes
- Fasting or dieting
- Sunlight exposure
Complications
- If you do not get treatment for acute porphyrias you may experience some life-threatening complications. For example dehydration, seizures, hypertension, shortness of breath, and others. Usually, these complications require the patient to stay in the hospital. Long-term complications include chronic kidney failure and pain, liver damage, and even liver cancer.
- Not treating cutaneous porphyrias may lead to permanent damage to the skin.
Rarely, doctors may recommend a bone marrow or liver transplant. It may be an effective option to get rid of porphyria.
How to Prevent Porphyria?
Unfortunately, it is not possible to prevent these diseases. The only way to lessen the symptoms is to avoid triggers and get an early diagnosis and proper treatment.
Diagnosis
Sometimes, it may be challenging to diagnose this condition because there are different health conditions that provoke similar symptoms of porphyria. If your doctor suspects you have porphyria, you may need to do some tests that will help to confirm the condition. They usually perform blood, urine, and stool tests to confirm the condition and determine the type of porphyria you experience. Another helpful test is genetic testing.
Treatment
The treatment usually is different among patients because it depends on the type and severity of the porphyria you experience. It usually involves medications and avoiding triggers. Check below some tips that can help to avoid symptoms triggers:
- Try to avoid medications that trigger the porphyria symptoms. Discuss with your doctor about safe medicines, supplements, and nonprescription medications for you.
- It is not allowed to use recreational drugs
- Limit or avoid alcoholic beverages
- Quit smoking
- Reduce the time you spend outdoors or wear protective clothes.
- Manage your existing health problems and stress
Acute Porphyrias
Treatment for these porphyria types helps to lessen the symptoms and reduce the risk of complications. For example:
- Injections that contain (Panhematin)
- IV (intravenous) glucose
- Hospitalization if you experience severe symptoms including chronic pain, vomiting, dehydration, or trouble breathing
In addition, doctors may also recommend an injection with Givosiran that is given to the patients monthly. It helps to decrease porphyria attacks.
Cutaneous Porphyrias
In such cases, doctors prescribe treatments to reduce porphyrins in the body and advise to limit your exposure to the sun. Check below some options that help to decrease porphyrins in the body:
- Phlebotomy (regular draws of the blood that help to reduce iron in the body)
- A medicine that contains Hydroxychloroquine also helps to decrease the porphyrin amount. This drug is also prescribed by the doctors to treat malaria.
- Dietary supplements (usually vitamin D)
Furthermore, increased doses of beta carotene are commonly prescribed by doctors for patients with erythropoietic protoporphyria.
Additionally, there is a medication approved only for erythropoietic protoporphyria and it is called Afamelanotide. It helps to increase melanin in the skin which protects you against sunlight.
Frequently Asked Questions
What are the common porphyria symptoms?
These include:
- Digestive issues (such as nausea, vomiting, constipation, and others)
- Muscle pain
- Severe abdominal pain
If you experience any of the previous symptoms, immediately contact your healthcare professional.
How common is porphyria?
It is considered a quite rare condition and it affects approximately 200,000 people in the U.S. which include all porphyria types.
Can morphine be used to relieve severe pain in people with porphyria?
Yes, if you experience severe pain, your doctor may recommend opiate-based medicines (such as Pethidine or Morphine. Discuss with your healthcare professional for more details.
