What Is Porphyria? Symptoms, Facts & Natural Remedies

Is your skin overly sensitive to sunlight? Don’t worry, you aren’t a vampire. However, you may have “vampire disease,” a nickname given to a form of porphyria.

Porphyria is the term for a group of disorders caused from an abnormal accumulation of porphyrins in the blood, which are chemicals that normally help hemoglobin bring oxygen throughout the body.

Symptoms commonly affect the nervous system, digestive system and the skin. One form, called cutaneous porphyria, has been nicknamed vampire disease because it causes abnormal skin reactions, including sometimes severe oversensitivity to sunlight. Although the exact rates of porphyria diseases are unknown, it’s believed that the type called porphyria cutanea tarda, which causes changes to the skin, including burns, is the most common form in the U.S. (1)

Porphyria disorders are both inherited and acquired. People who have inherited porphyria from one or both parents have deficiencies in certain enzymes that help with normal hemoglobin functions. However, even if a mutated gene is inherited, it doesn’t guarantee that someone will experience symptoms (this is called latent porphyria). In fact, in the majority of cases, people who test positively for carrying deficient genes related to porphyria either never actually have symptoms or only experience short episodes of symptoms that are triggered by certain lifestyle habits.

In other words, most often enzyme deficiencies alone do not produce porphyria diseases. What types of risk factors increase the chances of porphyria symptoms? These include eating a poor diet, medication or drug use, hormone imbalances and high amount of stress. Whether you’ve acquired or inherited the disease, avoiding these risk factors can help greatly reduce your chance of experiencing reoccurring porphyria symptoms.

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What Is Porphyria and How Does It Develop?

There are eight types of metabolic porphyria diseases, and each one corresponds to low levels of a specific enzyme in the heme-biosynthetic pathway. Porphyria disorders are usually genetic in nature, since inherited enzyme deficiencies cause porphyrin chemicals to reach abnormally high levels.

What’s the role of porphyrins, and are they dangerous? Porphyrins play an important part in the distribution of healthy blood cells throughout all vessels, organs and tissues, as they work by binding hemoglobin (a type of protein in red blood cells) to iron and oxygen molecules.

Porphyrins themselves are not inherently bad or dangerous, as every healthy person needs them in order to survive. However, when the body has trouble binding them to hemoglobin in the blood, someone can become very sick and experience a number of serious symptoms. As porphyrins wind up building, they negatively affect nerves and vital organs, including the brain and skin.

There’s more than one type of porphyria, including several forms that are genetic (parents pass along an abnormal gene to their child) and other types that are believed to be triggered due to lifestyle and environmental factors. (2) Genetic cases are usually tied to a deficiency in certain enzymes needed in heme production, but when this sole cause cannot be identified, “activating factors” are said to also be involved. Factors that might contribute to the development of porphyria can include abnormal changes in hormone levels, nutrient deficiencies and possibly other factors, such as drug use and a poor diet.

Regarding symptoms, experts distinguish between two general categories of porphyria disorders: acute porphyrias and cutaneous porphyrias. Within each major category there are various types of porphyria disorders that cause different symptoms.

• Acute porphyria mostly affects the nervous system and can cause very serious, widespread symptoms.
• Cutaneous porphyria mainly affects the skin.
• It’s also possible to have a form of porphyria that causes symptoms that affect both the nervous system and the skin simultaneously.

Causes of Porphyria

The causes of porphyria depend on which type someone has. In the majority of cases, it’s caused from someone inheriting an abnormal/mutated gene that interferes with normal hemoglobin functions (this type is usually called hereditary hepatic porphyria).

What is heme, and how does porphyria alter its functioning?

• Heme helps remove chemicals from the body and is also a major component of hemoglobin — the vital protein that’s found in red blood cells that carries oxygen from the lungs to the rest of the body.
• Heme is produced from bone marrow and inside the liver when porphyrins form a link with iron.
• The process of forming porphyrins and using them to help make hemoglobin requires that eight different enzymes be present, however a deficiency in one or more of these enzymes stops the process from taking place.
• There are multiple types of porphyria disorders because people can be deficient in any of the eight enzymes needed to form hemoglobin.
• Some forms of porphyria are caused by a defective gene from one parent (called autosomal dominant pattern), while other forms are caused from defective genes from both parents (called autosomal recessive pattern). (3, 4)
• Two common enzyme deficiencies that are linked to genetic porphyria are called porphobilinogen deaminase and hydroxymethylbilane synthase. (5)

Risk Factors for Porphyria

Other types of porphyria are not entirely inherited. Instead, they’re caused from a combination of factors, some of which are genetic and some of which are lifestyle-related. Certain “triggers” can increase someone’s demand for heme production, but if the person is already deficient in an enzyme needed to make hemoglobin, porphyria symptoms can start to emerge.

Because a poor diet and unhealthy lifestyle can overwhelm the body’s ability to handle a deficient enzyme, below are believed to be risk factors for developing porphyria symptoms: (6)

• Taking certain medications and drugs (including some antibiotics, birth control pills or psychoactive/psychotropic drugs for depression/anxiety)
• Toxicity and chemical exposure
• Nutrient deficiencies (usually caused from eating an unhealthy diet)
• Frequently dieting or fasting
• Smoking cigarettes and drinking high amounts of alcohol
• High levels of stress
• Having reoccurring infections or other illnesses (including hepatitis C, which affects the liver)
• History of liver disease
• Hormonal imbalances and using hormone replacement drugs (including those containing estrogen)
• High amounts of unprotected sun exposure
• Having excess iron

Symptoms of Porphyria

People with porphyria can experience a very wide range of symptoms depending on which specific type of the disorder they have (acute versus cutaneous), their age and their overall level of health. Some have no symptoms at all, and the disease remains latent, while others that have symptoms that could be life-threatening at times.

The most common signs and symptoms of acute porphyria (the type that affects the nervous system) include: (7)

• Swelling and fluid retention in the stomach, trunk/abdomen
• Digestive problems and abdominal pains, sometimes which are severe, including diarrhea, vomiting, bloated stomach, gas and constipation
• Chest pains
• Muscle pains, weakness, and tenderness in the legs and back
• Trouble sleeping or insomnia
• Anxiety or paranoia
• Trouble concentrating, memory loss and confusion
• High blood pressure
• Heart palpitations (fast heartbeats)
• Trouble breathing
• Seizures

On the other hand, the most common signs and symptoms of cutaneous porphyria (the type that affects the skin) include:

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• High sensitivity to sunlight and easily becoming burned
• Sudden skin redness, skin pains due to blisters and signs of inflammation, such as swelling
• Peeling and itching
• Sensitivity to products that normally don’t cause reactions
• Scarring and discoloration on the skin
• Changes to skin texture and appearance, including slowed healing after blisters
• Increased hair growth
• Sometimes discoloration of the urine, including seeing a red or brown tint

When do symptoms of porphyria usually start, and how long do they normally last?

It’s common for porphyria to cause “attacks” of symptoms that last for about one to two weeks. Symptoms then go away over the course of several weeks but return at a later time.

Research shows that acute porphyria disorders normally begin causing symptoms during early t0 middle adulthood. It’s uncommon for children to experience symptoms prior to puberty. Many times symptoms go away before someone reaches older age, such as prior to a woman going through menopause. With cutaneous porphyria disorders, on the other hand, symptoms can start to emerge at a younger age, including during infancy or childhood.

Conventional Treatment for Porphyria Disorders

Doctors diagnose porphyria through performing blood, genetic, urine and stool tests, at which point conventional treatments depend on the type of porphyria the person has. Some common ways that porphyria is treated include: (8)

• Glucose injections: With acute porphyria, glucose and other carbohydrates are used to help repress the pathway for synthesis of heme and offset overproduction of porphyrins. Sometimes these are directly injected during an attack to speed up the process and make the carbohydrates more effective. (9) Glucose loading can decrease the liver’s production of porphyrins and porphyrin precursors and tend to be needed about every four days. Glucose can also be taken by mouth.
• Therapeutic phlebotomies: These are procedures that help reduce iron in the liver and are done by removal of about a pint of blood from a vein.
• Hydroxychloroquine tablets: Pills used to reduce porphyrins in the liver.
• In some cases, additional supplements are given to patients to help them avoid nutrient deficiencies and consume enough calories. These can include essential vitamins like vitamin D, minerals, amino acids, antioxidants and fats to maintain all dietary requirements.
• In severe cases, a liver transplant or bone marrow transplant might be performed. It’s also possible to need surgery to remove the spleen or repeated blood transfusions.

Although some forms of porphyria are genetic and not completely preventable, the good news is that oftentimes symptoms can be managed and greatly reduced through making certain lifestyle and dietary changes.

Natural Treatments for Porphyria

1. Protect and Treat Sensitive Skin

Especially in the case of cutaneous porphyrias, it’s crucial to avoid excess sun exposure since this can cause severe burning and blisters. Wear a natural sunscreen whenever directly exposed to the sun, wear a hat or sunglasses, and try to avoid being in the sun during peak hours of the day. It’s also a good idea to consume more antioxidants, such as carotenoids/beta-carotene, which can increase your skin’s natural tolerance to sunlight (although this alone is still not enough to stop burns in some cases).

If you do experience blistering, dryness or other symptoms of a burn, helpful tips for sunburn relief include using aloe vera gel, taking a milk or oatmeal bath, and applying apple cider vinegar or essential oils. Also consider taking a vitamin D supplement if you’re avoiding sunlight since this can lead to deficiency.

2. Eat a Nutrient-Dense Diet

The quality of someone’s diet is one of the most important factors that influences severity of porphyria symptoms. Symptoms are impacted by someone’s diet because of how the liver produces or halts production of enzymes depending on what types of foods are eaten. Obesity is also a risk factor for worsened porphyria symptoms, so a healthy diet plus portion control is important.

Other than consuming a balanced diet, it’s important not to diet drastically, fast or cut calorie intake too low. Fasting for more than 24 hours, eating a low-carb diet for weight loss and/or reducing calories to “starvation levels” have been shown to worsen symptoms since this can cause complications with enzyme production and worsened porphyrin accumulation.

Healthy foods that can help you manage porphyria symptoms include:

• Unprocessed carbohydrates: Carbs shouldn’t be reduced to low levels but at the same time don’t need to be overconsumed either. Complex, unprocessed carbs include ancient grains, beans or legumes, vegetables, root veggies like sweet potatoes, and fresh fruit.
• Healthy fats: These help manage blood sugar, control your appetite and can help you maintain a healthy weight. Sources include coconut oil or olive oil, nuts, seeds, wild-caught fish and avocado.
• High-antioxidant foods: Antioxidants help protect the skin, lower inflammation and reduce free radical damage that weakens immune function. Good sources include yellow or orange veggies and fruits, leafy green veggies, and root vegetables.
• High-quality, unprocessed protein foods: Getting enough healthy protein is important for meeting dietary requirements, however processed meats should always be avoided. Packaged meat products and those cooked at high temperatures might contain chemicals that can make symptoms worse.
• Potassium-rich foods: These include beans, avocado, broccoli, sweet potato and bananas.
• Reduce consumption of “empty calories”: This includes packaged foods, fried or fast foods, alcohol, sugars, refined fats and oils, and refined grains.

3. Avoid Chemical and Toxin Exposure

Smoking cigarettes, drinking high amounts of alcohol and using recreational drugs all increase the risk for porphyria complications. Certain chemicals found in cigarettes, and even low-quality foods like processed meats, include Benzo(a)pyrene, which is known as a “polycyclic aromatic hydrocarbons” that can stimulate the heme biosynthetic pathway in the liver. (10)  In order to avoid worsened symptoms, such as mental impairment, anxiety, sleep trouble and high blood pressure, work on quitting as soon as possible.

4. Reduce Medication Use

Certain prescription medications can contribute to attacks and liver damage. If you take medications for depression or anxiety, high blood pressure or cholesterol drugs, or hormone replacement drugs, talk to your doctor about the type of porphyria you have and ways to avoid worsening symptoms.

If you’re starting any new medications or become sick with an infection, always tell all your health care providers that you have porphyria. And if you have experienced sudden attacks and severe symptoms that have put you in the hospital, consider wearing a medical alert bracelet or necklace that can help professionals identify your condition and medication restrictions.

5. Improve Liver Function

The liver plays a critical role in the heme biosynthesis pathway, detoxifying the body of chemicals, processing extra hormones and managing porphyria levels. (11) Someone has the highest susceptibility to developing porphyria in response to common causes of liver injury coupled with inheritance of genes that regulate components of the hemoglobin activation process.

To help cleanse the liver, avoid the following risk factors as much as possible, which can contribute to scarring, liver damage, enzyme abnormalities and liver disease:

• Having low potassium levels and high sodium intake (contributing to high blood pressure)
• Heavy alcohol abuse
• Unprotected sex
• Long-term use of medications and hormone replacement drugs
• Obesity
• A diet high in saturated fats and processed foods (contributing to high levels of triglycerides in blood)
• Leaving viral infections, viruses and autoimmune diseases untreated
• You can also consume supplements that help you detox and support liver function, including milk thistle and activated charcoal

6. Stress Management

Both physical stress (such as infections or illnesses) and emotional stress can trigger porphyria symptoms. To help manage symptoms, be sure not to crash-diet, fast or severely limit calories, overexercise, suffer from a lack of sleep, or fail to respond to emotional stress. What are some proven ways you can relieve stress naturally? These include getting seven to nine hours of sleep nightly, moderate exercise, meditation, reading and writing, warm baths with essential oils, and spending time in nature.

Facts About Porphyria Disorders

• Enzyme deficiencies that cause porphyria are usually inherited but triggered by certain environmental/lifestyle factors.
• There are eight distinct types of porphyria diseases, caused by deficiencies in one of eight types of heme enzymes.
• Porphyria diseases are split into two main categories: acute, which affect the nervous system, and cutaneous, which affect the skin.
• The most common type in the U.S. is cutaneous porphyria, which causes high sensitivity to sunlight.
• About 80 percent of patients with cutaneous porphyria have the sporadic type I caused from UROD deficiency in the liver.
• The three most common characteristics of porphyria are having sudden symptoms described as “porphyric attacks,” acute systems that affect the nervous system and chronic skin symptoms. (12)
• Three of the most significant risk factors for experiencing porphyria symptoms include liver damage, untreated infections and nutrient deficiencies from a poor diet.

Precautions Regarding Porphyria

Rather than taking matters into your own hands, it’s best to visit a doctor if you experience an “attack” of the following symptoms associated with this condition suddenly and severely, or for the first time:

• Severe abdominal pains or cramps
• Severe swelling and fluid retention in the trunk/abdomen
• Trouble walking due to chest or abdominal pains
• Severe indigestion, constipation that lasts more than several days, vomiting and diarrhea
• Sudden high sensitivity to the sun or severe burns
• Red or brown urine

Final Thoughts on Porphyria

• Porphyria disorders are eight genetically distinct metabolic disorders that interrupt the heme-biosynthesis pathway.
• It’s caused by a combination of genetic factors and environmental/lifestyle factors, including liver damage and untreated illnesses.
• Symptoms can include oversensitivity to sunlight, abdominal pains, mood changes, sleep trouble and digestive problems.
• Natural treatments include healing the liver, avoiding fad dieting, resolving nutrient deficiencies, reducing stress and changing medication use.

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