Porphyria (poor-FEAR-ee-uh) refers to a group of disorders that result in a buildup of chemicals called porphyrins in your body. Although porphyrins are normal body chemicals, it's not normal for them to build up. The cause is usually an inherited mutation.
Porphyria typically affects your nervous system or skin or both. The specific signs and symptoms of porphyria depend on which of your genes is abnormal. Porphyria is usually inherited, but environmental factors may trigger the development of symptoms in some types of porphyria.
Treatment depends on the type of porphyria you have. Although porphyria usually can't be cured, certain lifestyle changes may help you manage porphyria.
There are two general categories of porphyria — acute and cutaneous. Signs and symptoms depend on the type of porphyria you have.
Acute porphyrias. These include forms of the disease that cause predominantly nervous system symptoms and, in some cases, skin symptoms, as well. Acute porphyria attacks are rare before puberty and after menopause in women. Signs and symptoms may last one to two weeks. Possible signs and symptoms include:
Cutaneous porphyrias. These include forms of the disease that cause skin symptoms as a result of oversensitivity to sunlight, but don't affect your nervous system. Some forms of cutaneous porphyria begin to show signs and symptoms during infancy or childhood. If you have this form of porphyria, you may experience:
When to see a doctor
Porphyria arises from a disruption in your body's production of a substance called heme.
Heme is found in all of your tissues, but the largest amounts are in your red blood cells, bone marrow and liver. Heme is a major component of hemoglobin, an iron-rich protein that gives your blood its red color. Hemoglobin enables red blood cells to carry oxygen from your lungs to all parts of your body, and to carry carbon dioxide from other parts of your body to your lungs so that it can be released when you exhale.
Eight enzymes convert chemicals called porphyrins into heme. In porphyria, an inherited mutation in one of the genes involved in heme production can cause an enzyme deficiency, which can lead to porphyrins building up in your body. Although porphyrins are normal body chemicals, it's not normal for them to build up.
Most forms are inherited
Just because you have inherited a gene or genes that can cause porphyria doesn't mean that you will exhibit signs and symptoms. You might have what's called latent porphyria, and never have signs and symptoms. This is the case for most carriers of the abnormal genes.
Additionally, environmental factors may trigger the development of signs and symptoms in some types of porphyria. When exposed to the trigger, your body's demand for heme production increases. This overwhelms the deficient enzyme, setting in motion a process that causes your signs and symptoms. Common triggers include:
Autosomal dominant inheritance pattern
In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You need only one mutated gene to be affected by this type of disorder. A ...
Autosomal recessive inheritance pattern
To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one ...
Possible complications of porphyria include:
Preparing for your appointment
If you have signs and symptoms of porphyria, you're likely to start by seeing your family doctor or a general practitioner. However, because porphyria can be difficult to diagnose, when you call to set up an appointment, you may be referred immediately to a doctor who specializes in blood disorders (hematologist).
It's a good idea to be well prepared for your appointment. Here's some information to help you get ready, and what to expect from your doctor.
What you can do
Preparing a list of questions before your appointment will help you make the most of your time together. List your questions from most important to least important. For porphyria, some basic questions to ask your doctor include:
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions that occur to you during your appointment.
What to expect from your doctor
What you can do in the meantime
Tests and diagnosis
Many signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, many doctors have not seen cases of the disorder before, making it more difficult to diagnosis. Because porphyria's signs and symptoms usually aren't distinctive, laboratory tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have.
If your doctor suspects porphyria, he or she may recommend the following tests:
Treatments and drugs
Lifestyle and home remedies
If you have porphyria, be sure to:
Although there's no way to prevent porphyria, if you have the disease, taking the following steps may help prevent symptoms:
Because porphyria is an inherited disorder, your siblings and other family members may want to consider undergoing genetic testing to determine if they have the disease.
Last Updated: 2011-05-07
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