Porphyria

What is it?

Haem is used in haemoglobin which helps to carry oxygen in our blood to different parts of our body.

In order to produce Haem it takes several stages and when one has a disorder of such pathways it is known as a rare condition called porphyria.

There are several different types of this condition depending on which pathway is affected.

They are described under two categories:

1. Acute Porphyrias

Types of porphyria:

2. Cutaneous (skin) Porphyrias

Types of porphyria:

Porphyria cutanea Tarda
Erythropoietic protoporphyria
Congenital Erythropoietic Porphyria (occurring in babies passed from mother to foetus)
Variegate Porphyria
Hereditary Corophorpyria
X-linked protoporphyria

Cause

Genetic disorder
Family history (when body not producing the red part of blood cells –heme)
Dieting
Fasting
Viral infections:
- Hepatitis C
- H.I.V
Smoking
Sun exposure
Menstrual hormonal conditions:
- Puberty
- Menopause
- Menstruation
Alcohol

Illicit drugs

Attacks caused by Medication i.e.

Barbiturates
Sleeping medication
Birth control pills

Vitamins, herbals and minerals

Excessive intake of iron

Source: www.porphyria-professionals.uct.ac.za

Symptoms

Acute Porphyria

Severe stomach pain?
Pain in back?
Pain in legs?
Pain in arms?
Dark-red purple urine?
Constipation?
Nausea and vomiting?
Muscle weakness and numbness (nerve damage)?
Convulsions?
Hallucinations and paranoia?
Confused?
Fast beating heart (tachycardia) and abnormally (arrhythmias)?
High blood pressure?
Headaches?
Breathing difficulties?

Cutaneous (skin) Porphyria

When exposed to the sun or sunlamps:

Burning and itching skin?
Skin damage and blisters?
Swelling of the skin?
Pain?
Increased hair growth?
Darkening and thickening of the skin?
Liver disease (yellow eyes and skin, dark urine, pale faeces, pain in liver area)?

Complications /Information to beware of/General tips:

Medical Emergency

Do not wait, phone for an ambulance

The types of porphyria are:

Detailed Information

Please copy and paste any key words from the title: Porphyria in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

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