On the last episode of Grey’s Anatomy (which, we know, was two weeks ago – sorry for the delay) Dr Bailey recalls a case in her intern year that helped her become the doctor she is today.

The patient presented in the episode had chronic pain and she’s been through many surgeries, including having her ovaries removed, but nothing worked. That led Dr Bailey (then called Mandy) to the diagnosis of porphyria.

Danger level: Medium

What is it?

Porphyria is a group of diseases resulting in the buildup in the body of materials called porphyrins and related materials, leading to abdominal pain, constipation and muscle weakness.

There are 2 types: Acute porphyria and cutaneous porphyria. We will discuss acute porphyria here.

Who gets it?

Acute porphyria is quite rare – it happens to 1-5 people out of 100,000 in the US. Outside the US it can be much higher: in Sweden, for example, it happens to 60-100 people out of 100,000.

It affects women 1.5-2 times more than it affects men. It usually happens around ages 18-40.

What causes it?

Our body produces a substance called heme. It can be found in all of our body, but mostly in red blood cells, our bone marrow and our liver.

Heme is created in our body out of materials called porphyrins. In the body, the machines that are responsible for converting materials from one type to another are called enzymes. In acute porphyria, one of these enzymes is defective, meaning that instead of converting to heme, porphyrins accumulate in the body.

The problem with the enzyme is usually genetic, meaning you inherit it from your parents.

Having the defective enzyme isn’t always enough. People with the defect might not have any symptoms, a condition which is called latent porphyria. Sometimes, though, there are triggers in the environment which call our body to produce more heme – meaning it will need extra-action from the enzyme. In this case, the symptoms may begin.

Examples of such triggers:

• Certain drugs – Such as some forms of antibiotics, but even birth control pills.
• Surgery
• Stress
• Smoking
• Dieting/fasting
• Infections
• Alcohol use
• Sun exposure
• Excess iron in the body

How does it feel?

Acute porphyria mainly affects our nervous system (we mentioned above another type – cutaneous porphyria – this type affects mainly the skin).

What does a person with acute porphyria feel?

• Abdominal pain
• Constipation
• Vomiting
• Diarrhea
• Pain in the arms, legs or back
• Muscle pain, tingling, numbness or paralysis
• Seizures
• Fever
• Confusion
• Hallucincations
• Disorientation
• Paranoia
• Red urine
• High blood pressure

How is it discovered?

There are several ways to discover when someone has porphyria:

1. Urine test: In it, the high level of porphyrins in the body will be shown.
2. Stool test: Sometimes porphyrins can be detected in the feces better than in the blood.

How is it treated?

There are several ways to treat this condition:

1. Hemin or hematin: This is a form of heme that the doctor injects to your body. This way the body will have enough heme and not try to create more of it (which in this disease will lead to more porphyrins accumulating).
2. Stopping any triggers: Such as medications that may have led to the condition, or an infection.
3. Intravenous sugar (glucose) – Can also inhibit the body’s need to produce heme.
4. A high-carbohydrate diet – Forget Atkins. This is true only for attacks of the disease, not between them.
5. Pain killers 

What happens after treatment?

Porphyria is a life-long disease with symptoms that come and go, more in some people, and less in others. Avoidance of triggers can help reduce the time between attacks.

The bottom line – How do I avoid it?

You can’t prevent having the disease itself (it’s genetic). But if you know you have it, taking the following steps may help avoid attacks:

1. Avoid medications known as triggers (consult your doctor about this)
2. Don’t use alcohol or illicit drugs
3. Avoid fasting or dieting too heavily
4. Don’t smoke
5. Minimize sun exposure. When outdoors, wear protective clothing and use sunscreen.
6. Treat infections promptly.
7. Reduce stress

Family members of people with porphyria are advised to undergo genetic testing, to discover if they have the defect themselves.

What next?

Get free site updates by RSS or by Email, or follow us on Facebook or Twitter.

_{»crosslinked«}