Porphyria

1 What is Porphyria?

A group of disorders that is the result of a buildup of natural chemicals that produce porphyrin – which is essential for the function of hemoglobin – on your body is called porphria.

Hemoglobin is a protein in your red blood cells that binds iron and carries oxygen to your tissues and organs.

The signs and symptoms of this disorder vary depending on what type and the severity of the condition. Mostly this is inherited but sometimes it can be the environmental factors that can trigger this and this affects your skin, nervous system and other organs.

Porphyria cannot be cured but treatment will depend on what type of porphyria you have.

2 Symptoms

Symptoms of porphyria may vary depending on its type.

The two general categories of porphyria are:

  • acute, that affects our nervous system,
  • cutaneous, that affects the skin.

For acute porphyria – this can be fatal and attacks are rare before puberty and after menopause in women. Possible symptoms might last up to two weeks and these include:

  • swelling of the abdomen,
  • severe abdominal pain,
  • vomiting,
  • constipation or diarrhea,
  • pain in your chest, back or leg,
  • palpitations,
  • insomnia,
  • restlessness or anxiety,
  • high blood pressure,
  • breathing problems,
  • seizures,
  • red or brown urine,
  • muscle pain, numbness, tingling , paralysis or weakness,
  • mental changes such as hallucinations, confusion, paranoia or disorientation.

PorphyriaSymptoms

For cutaneous – this causes skin symptoms that attacks can last up to several days. Possible signs and symptoms include:

  • itching,
  • sensitivity to the sun and artificial light,
  • fragile skin,
  • erythema or edema,
  • increased hair growth,
  • red or brown urine,
  • skin color changes,
  • scars,
  • blisters that takes weeks to heal.

Consult your doctor immediately if:

  • you have a severe abdominal pain or pain in your back, chest or leg with constipation, diarrhea or vomiting,
  • red or brown urine,
  • sensitivity to the sun or artificial light that can cause blisters, edema or erythema.
Have a question aboutPorphyria?Ask a doctor now

3 Causes

Since porphyria is inherited and genetic, there's no distinct cause. In some cases environmental factors can trigger the symptoms.

Heme breaks down the chemicals so it can be removed from your body and a major component of hemoglobin. Eight different enzymes add and convert natural, smaller building blocks into porphyrin, which becomes heme with the addition of iron. If you have a deficiency in an enzyme it can result in the buildup of porphyrins causing symtoms.

Most forms or porphyria are inherited and can occur if:

  • defective genes from both parents (autosomal recessive pattern),
  • a defective gene from one of your parents (autosomal dominant pattern).

It doesn’t mean that you will have the symptoms even if you inherited a gene or genes. This might be latent porphyria that shows no symptoms.

4 Making a Diagnosis

Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have.

Consult your doctor if you are experiencing theses symptoms and he may refer you to a hematologist who specializes in blood disorders. Make a list of all of your symptoms and the supplements, vitamins and medications you are taking.

Some of the questions that you can ask your doctor include:

  • What is causing my symptoms?
  • What are other possible causes?
  • How severe is my condition?
  • What kind of test do I need?
  • What treatments do you recommend?
  • Do I need to follow any restrictions?
  • What precautions do I need to take when I’m outdoors?
  • Should my family members be screened?

Your doctor will also ask you questions such as:

  • When did you first experience symptoms?
  • Are they occasional or continuous?
  • How severe are they?
  • Do any family members have the same symptoms?

Some of lab tests include:

  • urine test – to check if you have an elevated levels of porphobilinogen and delta-aminolevulinic acids;
  • blood test – to check if you have an elevated level of porphyrins in your blood plasma;
  • stool sample test – to check if you have elevated levels of some porphyrins that might help your doctor in determining the type of pophyria.
  • Genetic testing may also be suggested.

5 Treatment

The treatment depends on the type of porphyria you have.

For acute porphyrias – is to provide treatment to the symptoms and prevent complications. Possible treatments are:

  • stopping medications that might have triggered the symptoms,
  • treatment of infections or other illnesses,
  • medicines for pain, vomiting and nausea,
  • glucose or sugar taken by mouth to maintain carbohydrates,
  • intravenous fluids for dehydration,
  • injection of hemin to limit the body’s production of porphyrin.

For cutaneous – treatment is to reduce of exposure to sunlight hat may include:

  • phlebotomy – drawing amount of blood to reduce the iron in your body,
  • medication – such as hydroxychloroquine (Plaquenil) or chloroquine (Aralen) that can absorb excess porphyrins, this medications are used by people who cannot take phlebotomy,
  • beta carotene – this can help your skin’s tolerance to sunlight,
  • eliminating or reducing triggers such as too much sunlight or medications, may be reduced or removed,
  • Vitamin D – to replace Vitamin D deficiency because of the avoidance of the sun.

6 Prevention

There is no prevention for porphyria but some of these may help in preventing its symptoms such as:

  • avoid alcohol or illegal drugs,
  • avoid medications that triggers acute attacks,
  • avoid smoking,
  • minimize sun exposure, if you are going to go outside use a broad-spectrum sunscreen and wear protective clothing,
  • avoid dieting and fasting that involves severe calorie restriction,
  • control your emotional stress,
  • treat infections and other illnesses.

You and your family might want to consider genetic testing because porphyria is an inherited disorder.

7 Alternative and Homeopathic Remedies

There are no homeopathic remedies for porphyria.

8 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with porphyria.

If you have porphyria:

  • consult your doctor as soon as possible because sometimes medications and treatments or surgery can trigger the symptoms,
  • consult your doctor and ask him what type of porphyria you have so you would know the symptom triggers and will avoid them,
  • wear a medical alert necklace or bracelet.

9 Risks and Complications

There are several risks and complications associated with porphyria.

Some of the risks that can cause porphyria include:

  • genetic factor,
  • environmental factors,
  • chemicals,
  • smoking,
  • fasting or dieting,
  • emotional stress,
  • liver disease,
  • sun exposure,
  • alcohol use,
  • menstrual hormones,
  • certain drugs such as barbiturates, sulfonamide antibiotics, birth control pills, psychoactive drugs,
  • excess iron from your body,
  • physical stress.

Possible complications may include:

  • breathing difficulties that can lead to respiratory failure if left untreated,
  • dehydration because of vomiting, if severe this might require receiving fluids through your veins,
  • high blood pressure or hypertension or may damage your kidneys,
  • hyponatremia or low sodium in your blood; liver damage, if severe may lead to liver transplant,
  • chronic kidney failure; permanent skin damage, scars may remain on your skin or you may have abnormal coloring or appearance which can also lead to falling hair.
Top