Porphyria

1. Porphyria
Stanley Binagi

2. Definition
• Porphyria refers to a group of disorders that result in a
build-up 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.
• Porphyria is usually inherited, but environmental
factors may trigger the development of symptoms in
some types of porphyria.
• Although porphyria usually can't be cured, certain
lifestyle changes may help you manage porphyria.

3. Cause
• One cause, two ways:
• Autosomal dominant inheritance pattern
• Autosomal recessive inheritance pattern
• The main cause is, the presence of an inherited
mutation in one of the genes involved in heme
production, which can cause an enzyme
deficiency, which can lead to porphyrins building
up in your body.
• NB: Porphyrins are supposed to be converted into
heme. This process requires 8 enzymes.

4. Types
• There are two main categories of Porphyria,
Acute and Cutaneous.
• Acute porphyrias forms of the disease that
cause predominantly NS symptoms and, in
some cases, skin symptoms, as well.
• Cutaneous porphyrias include forms of the
disease that cause skin symptoms as a result
of oversensitivity to sunlight, but don't affect
your nervous system

5. Signs and Symptoms
• CUTANEOUS PORPHYRIA:
• Itching
• Erthema
• Skin swelling
• Blisters
• Red urine

7. Signs and Symptoms
• ACUTE PORPHYRIA:
Insomnia Excessive sweating
Anxiety Seizures
Severe abdominal pain Confusion
Constipation Hallucination
Vomiting Disorientation
Diarrhoea Hypertension
Pain in arms/legs/back Red urine
Dehydration e.t.c

8. Treatment
• Acute porphyrias
Treatment of acute porphyrias focuses on
eliminating symptoms
• Stopping medication which may trigger it
• Drugs to controll pain
• Treatment of other associated diseases
• Give IV glucose to maintain carbohydrate intake.
• IV fluids to prevent dehydration
• Hemin or hematin injections.

9. Treatment
• Cutaneous porphyrias
Treatment of cutaneous porphyrias focuses on
reducing the amount of porphyrins in your body
to help eliminate your symptoms.
• Drawing blood (phlebotomy). This reduces the iron in your
body, which decreases porphyrins
• Medication. Drugs used to treat malaria — such as
hydroxychloroquine and chloroquine — can absorb excess
porphyrins and help your body get rid of them
• Beta carotene. Daily doses of beta carotene or other
carotenoids, such as canthaxanthin may increase your skin's
tolerance to sunlight.

10. Reference
• Mayo Clinic articles