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.
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.
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.
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