Individuals with porphyria may want to stay up-to-date on the conditions as well as novel treatments and news. The following are websites patients can access to stay well-informed:
Canadian Association for Porphyria (www.canadianassociationforporphyria.ca)
American Porphyria Foundation (www.porphyriafoundation.org)
Coping and Support
Many people with porphyrias wonder if they can still have children, as they may have a genetic condition that can possibly be passed down to their child. The answer is definitely yes, you can still have children. It may help to speak with a genetic counselor and discuss the likelihood of passing your condition down.
Having porphyria can prove challenging to many individuals. Sometimes, the symptoms being experienced may seem bizarre, alarming, and confusing. If it feels as though you are having difficulty coping with the condition, speak with a doctor or nurse or counselor.
Diagnosis and Treatment
If your physician believes you are exhibiting symptoms of porphyria, you will require testing. This can involve tests of your blood, urine, and/or a sample of your bowel movements. Blood tests include measures of the amount of a chemical in your body known as “PBG”, iron levels, assessment for infection, and assessment for liver disease.
Genetic testing may also be performed to identify if an abnormal gene is the cause of your porphyria. Moreover, genetic testing can help identify if you have a gene that causes an abundance of iron that can be stored within the body.
It is important to recognize that porphyria is not are not a common condition. Depending on your physician’s experience, he or she may not know a lot about the condition. This is why it is important the physician educates themselves about it. Furthermore, because each specific porphyria has a slightly varied treatment protocol, it is important for your clinician to know about this.
Each of the porphyrias is treated differently.
- Acute porphyrias: These will be treated with medication so that your body will stop producing the chemicals that are causing your symptoms. Also avoidance of triggering medications.
- Cutaneous porphyrias: The primary method of treating these symptoms is to protect your skin from sun exposure. This includes staying outside of the sun until your porphyrin levels are back to normal. However, if you do need to be outside, use protection such as hats, gloves, sunglasses and sunscreen.
Each of the porphyrias will induce different symptoms. As a whole, these symptoms can be separated into two main types: “acute” and “cutaneous”.
Acute porphyria: Acute porphyrias, such as AIP, will happen in the form of “attacks” that typically last a few days but can also last weeks. A variety of things can cause an attack such as medications, alcohol, infection, and stress. Symptoms tend to be diminished between attacks. The symptoms of the acute attack include:
- Belly pain (the most common symptom)
- Muscle pain, weakness, or numbness
- Anxiety, confusion, depression
- A fast heart beat
- Fragility, erosions and blisters on the skin (particularly on the face and on the back of the hand)
- Skin pain, swelling, and itching
Some porphyrias can cause symptoms of both acute porphyria and cutaneous porphyria. Moreover, some porphyrias occur in childhood while others will first be observed in adulthood.
Overview: What is Porphyria (3)
Porphyrias are a collection of rare metabolic disorders that influence how the body assembles a substance called “heme”. Heme is an iron-containing compound within red blood cells. It has many important functions in the body including: making the blood the colour red and it also helps to transfer oxygen throughout the body. Individuals with porphyria have a build-up of chemicals called “porphyrins” that can accumulate within the body and cause symptoms. The prevalence rates of porphyrias vary from 0.5 to 10 per 100,000 individuals. It occurs in all races and in both sexes.
There are approximately 8 separate types of porphyria. A majority of them originate from abnormal genes that are passed down families. However, it is possible to be the first person in your family to develop porphyria. The common variants of porphyria are:
- Porphyria cutanea tarda (PCT)
- Acute intermittent porphyria (AIP)
- Erythropoietic protoporphyria (EPP)