Symptoms and treatment of Porphyria

Description

Porphyria (for-FEAR-e-uh) refers to a group of rare diseases that are the result of a buildup of natural chemicals called porphyrins in the body. Porphyrins are required to make heme, a part of hemoglobin. Hemoglobin is a protein in red blood cells. It carries oxygen to the body's organs and tissues.

Eight enzymes are necessary to change the porphyrin in heme. Without enough of any of these enzymes, porphyrins accumulate in the body. High levels of porphyrins can cause significant problems, primarily in the nervous system and the skin.

In general there are two types of porphyrias. Acute porphyrias started quickly and affect mainly the nervous system. Porphyrias skin primarily affect the skin. A couple of types of porphyrias affect the nervous system and the skin.

The symptoms of porphyria vary depending on the specific type of porphyria and how severe it is. Porphyria is usually hereditary. One or both parents to pass along a mutation to their children.

Although porphyria can't be cured, medications, and certain lifestyle changes can help you manage. The treatment of the symptoms depends on the type of porphyria you have.

Symptoms

The symptoms can vary widely depending on the type of porphyria and in the severity of symptoms. The symptoms may also vary among people with the condition. Some people with a change in the gene that causes porphyria never have any symptoms.

Acute porphyrias

Acute porphyrias include forms of the disease that can cause symptoms of the nervous system. Some of the shapes can also affect the skin. The symptoms appear quickly and can be severe. The symptoms can last hours, days, or weeks.

The most common form of acute porphyria is called acute intermittent porphyria (aip). AIP can last for hours or days. Intermittent means that the symptoms may disappear, but come back later. When symptoms occur they are sometimes called attacks.

The symptoms of acute porphyria may include:

Severe pain in the belly, the chest, legs or back.
Digestive problems, such as constipation, nausea and vomiting.
Muscular pain, tingling, numbness, weakness, or paralysis.
Brown or red urine.
Mental changes, such as anxiety, hallucinations, confusion or mental confusion.
Fast or irregular heartbeat can be felt, which is called palpitations.
Breathing problems.
The high blood pressure.
Seizures.

Porphyrias skin

Porphyrias skin include forms of the disease that causes the symptoms of the skin as a result of sensitivity to the sunlight. These forms usually do not affect the nervous system. Porphyria cutanea tarda (PCT) is the most common type of all the porphyrias.

Sun exposure can cause:

The sensitivity to the sun and, sometimes, artificial light, causing pain and burning in the skin.
Sudden pain in skin redness and swelling.
Blisters on the exposed skin, usually the hands, arms, and face.
Fragile, thin skin with changes in the color of the skin.
The itching.
Much of the growth of the hair in the affected areas.
Brown or red urine.

Erythropoietic protoporphyria (uh-rith-roe-pois-ET-ik pro-toe-for-FEAR-e-uh), also called EPP, is a rare type of cutaneous porphyria. It is the most common childhood porphyria. The sun or artificial light exposure quickly results in painful skin burning, irritation, and swelling. Small bumps and blisters also appear. Repeated exposure may cause thick, leathery skin and scars.

When to see a doctor

Many of the symptoms of porphyria are similar to those of other more common conditions. This can make it hard to know if you are having an attack of porphyria. If you have symptoms that could be porphyria, get medical attention. Timely treatment is important.

Causes

All types of porphyria involve a problem of making heme. Heme is a part of hemoglobin. Hemoglobin is the protein in red blood cells that transports oxygen from the lungs to all parts of the body. Heme also plays an important role in the cleaning of the drugs and the body's hormones.

Heme is made in the bone marrow and the liver. This process consists of eight different enzymes that convert the porphyrin in heme. A shortage or a change in anyone of these enzymes leads to an accumulation of porphyrins. The enzyme is affected determines the type of porphyria.

In the porphyrias skin, porphyrins accumulate in the skin. When exposed to sunlight, which causes the symptoms. In the acute porphyrias, the accumulation affects the nervous system, causing symptoms.

The genetic forms

Most of the forms of porphyria are caused by a change in the gene transmitted from one or both parents. Porphyria may occur if you inherit:

A mutation of one of their parents (autosomal dominant).
Change the genes of both parents (autosomal recessive pattern).

Just because you inherit a gene or genes that can cause porphyria does not mean that you are going to have symptoms. You may not have symptoms. This is also the case for the majority of the carriers of the genes altered.

The acquired forms

Porphyria cutanea tarda (PCT) is usually not passed on in families. In the PCT , certain triggers that can cause an accumulation of porphyrins, which can cause symptoms. Examples of factors that include:

Too much iron in the body, often due to a condition called hemochromatosis, which is caused by a change in the gene.
Viral infections, such as HIV or hepatitis C.
The excessive use of alcohol.
The habit of smoking.
Hormone changes during the menstrual period.

Risk factors

In addition to genetic risk factors, environmental risk factors may trigger symptoms of porphyria. When exposed to the trigger, the body of the demand for production increases. This overwhelms the low level of an enzyme necessary, put in place a process that causes a buildup of porphyrins.

Examples of factors that include:

The exposure to sunlight.
Certain medications, for example, birth control pills, sedatives, and barbiturates.
Recreational or illicit drugs.
The diet or fasting.
The habit of smoking.
Physical stress, such as infections or other diseases, or surgery.
The emotional stress.
The consumption of Alcohol.
The hormonal changes during the menstrual period.

Complications

Possible complications depend on the form of porphyria:

Acute porphyria can be fatal in the event of an attack is not treated quickly. During an attack, you may experience dehydration due to fluid loss, breathing problems, seizures, or high blood pressure. You may need a stay in the hospital for treatment. Long-term complications, with recurrence of acute attacks may include long-term pain, chronic renal failure, liver damage or liver cancer.
Porphyrias skin may result in permanent damage of the skin. And the blisters on the skin can become infected. When your skin heals after the symptoms, there may be a change in the appearance and coloration, to be fragile and slow to heal, or leave scars. Porphyrias skin also increase the risk of liver damage or liver cancer.

In rare cases, a bone marrow transplant or liver transplant may be necessary.

Prevention

Although there is no way to prevent porphyria, if you have the disease, avoidance of triggers to help prevent the symptoms.

Because porphyria is usually an inherited disorder, their siblings and other family members may want to consider genetic testing to determine if they have the condition. Genetic counseling is important to help understand the results of the test and the risks.

Diagnosis

Many of the symptoms of porphyria are similar to those of other more common diseases. Because porphyria is rare, it can be difficult to diagnose.

The laboratory tests are necessary to make a diagnosis of porphyria and to determine the form of the disease you have. The types of tests depend on the type of porphyria your health care provider suspects. The tests include a combination of blood, urine, or stool tests to measure the levels of porphyrins. Other tests may be needed. Genetic testing may be useful to confirm the diagnosis and determine the type of porphyria you have.

To speak with a genetic counselor can provide information about genetic tests and the risk of porphyria for their children. If you have porphyria, a genetic testing and counseling may also be recommended to family members.

Treatment

The treatment depends on the type of porphyria and severity of the symptoms. Treatment includes medicine. It also includes identifying and avoid symptom triggers, and to relieve symptoms when they occur.

Avoid the triggers

Avoid triggers:

Do not use medications that can cause acute attacks. Ask your health care provider to obtain a list of safe and unsafe medicines, including herbal supplements and over-the-counter products.
Do not use recreational or illicit drugs, and to avoid the excessive consumption of alcohol.
Avoid fasting and diet that involves severe calorie restriction.
Do not smoke.
Minimize exposure to the sun. When you are outdoors, wear protective clothing. Also, the use of an opaque blocking the sun protection, such as one with zinc oxide or titanium dioxide. Use an SPF of at least 30, when it is expected a short or limited the amount of exposure to the sun. By more time outdoors, use an SPF of 50. When in the interior, the use of the filter window.
The treatment of infections and other diseases immediately.
Take measures to reduce the emotional stress.
Talk with your health care provider about options to avoid the attack.

Acute porphyrias

Treatment of acute attacks of porphyria is focused on providing fast treatment of the symptoms and prevent complications. Treatment may include:

Injections of hemin (Panhematin), a drug that is a form of heme, is to limit your body's production of porphyrins.
Receive liquid that contains sugar, also called glucose, through a vein, or the sugar is taken by mouth, if you can. This is done to make sure you get enough carbohydrates.
A stay in the hospital for the treatment of symptoms such as severe pain, vomiting, dehydration, or breathing problems.

Givosiran (Givlaari) is a monthly publication of shooting for the adults with acute hepatic porphyria. The hepatic porphyrias, which include acute intermittent porphyria, the lack of the enzymes needed to make heme is produced in the liver. Givosiran may reduce the number of attacks of porphyria. Talk about information security and the potential of serious side effects with your health care provider.

Porphyrias skin

The treatment of the porphyrias skin focuses on the reduction of exposure to triggering factors such as the light of the sun. Also includes reducing the amount of porphyrins in the body to help relieve the symptoms. The reduction of porphyrins may include:

Regularly scheduled blood tests to reduce the iron in your body, which decreases the porphyrins. This process is called phlebotomy.
Taking a medication used to treat malaria, usually hydroxychloroquine (Plaquenil). This can help to absorb the excess of porphyrins and help your body to get rid of them more quickly than usual. The medication is usually used only in people who cannot tolerate phlebotomy.
A dietary supplement to replace low levels of vitamin D caused by avoiding sunlight.

High doses of beta-carotene are a common treatment for erythropoietic protoporphyria.

A treatment option approved only for erythropoietic protoporphyria is afamelanotide (Scenesse), a medication that increases the melanin in the skin. This protects the skin from sunlight and it allows for more time in the sun without a painful skin reaction. A dental implant is placed under the skin that slowly releases the medication. Talk with your health care provider about the security of the information and of the possible severe side effects.

Lifestyle and home remedies

If you have porphyria:

Learn what might trigger your symptoms. Talk with your health care provider about the type of porphyria you have. Learn about a possible symptom triggers and how to avoid them.
To inform their health care providers. Tell all of your providers that you have porphyria. This is important because sometimes, treatments, medications, illness, or surgery may trigger the symptoms of porphyria.
Wear a medical alert bracelet or necklace. Have information about your condition placed on a medical alert bracelet or necklace. Always use.

Preparing for your appointment

If you have symptoms of porphyria, which is likely to start by seeing your primary care provider. However, due to porphyria can be difficult to diagnose, you may be referred to a specialist in blood disorders (hematologist), or skin conditions (dermatologist).

Here's some information to help you prepare, and what to expect during your appointment.

What you can do

Before your appointment, make a list of:

The symptoms you are experiencing, including any that may seem unrelated to the reason for your appointment.
Bring photos of any eruptions of the skin to the appointment, in the event that you do not have a rash on the day of your appointment.
Key personal information, including any major stresses or recent life changes. Provide as much information as you can about the symptoms above and have caused them.
All the drugs, vitamins, herbs, or other supplements you are taking, including dosage.
Questions to ask your health care provider.

Questions may include:

What is the most likely cause of my symptoms?
What are other possible causes?
What kinds of tests do I need?
What treatment do you suggest?
What are the alternatives to the primary approach you're suggesting?
I have another health condition. How can I better manage these together?
There are precautions or restrictions which should I follow?
I need genetic testing? If so, you should members of my family will also be tested?
Are there brochures or other printed material I can have? What websites do you suggest?

Feel free to ask questions during your appointment.

What to expect from your doctor

Your health care provider is likely to ask several questions. These may include:

When did the symptoms begin?
The symptoms been constant or come and go?
What, if anything, seems to improve your symptoms?
What, if anything, appears to worsen your symptoms?
Do the members of your family have similar symptoms?

Be ready to answer the questions so that you can spend time on areas that are important to you.