Porphyria
......................................................................................................................................................................................................................................................................................................................................................................................................
Porphyria is the genetic abnormality in which porphyrins can’t convert into heme (a substance of hemoglobin which contains iron). Porphyria can affect red blood cells, liver, skin, gastrointestinal system, nervous system depending on the specific type. Porphyria is caused by both environmental and genetic factor and affect more in women than men.
What causes the Porphyria?
- Most type of Porphyria is inherited
- Drugs such as barbiturates, tranquilizers, sulfonamide, sedatives
- Smoking and alcohol intake
- Infections
- Fasting
- Estrogen hormones
What are the types of Porphyria?
Although there are 7 different types of porphyrias but generally it classified into three different groups, which are:
- Acute porphyrias
- Cutaneous porphyrias
- Neurocutaneous porphyrias
What are the signs and symptoms of porphyria?
Signs and symptoms depend on the type of porphyria.
1) Acute porphyrias: Nervous systems are more affected in this form, which includes:
- Insomnia
- Sever abdominal pain
- Seizures
- Disorientation
- Hallucination
- Confusion
- Vomiting
- Diarrhea
- Blood in urine
- High blood pressure
- Muscle cramps, muscle pain
- Paralysis
- Tachycardia (fast heart rate)
- Decreased tendon reflex
2) Cutaneous porphyrias: Skin is more affected in this form, and highly sensitive to sunlight, which include:
- Erythema (painful skin redness)
- Itching
- Haematuria (blood in urine)
- Blisters
- Skin edema
3) Neurocutaneous porphyrias: Both skin and nervous system are affected in this form and present with the signs and symptoms of both .
How is porphyria diagnosed?
Diagnosis relies on clinical presentation and laboratory tests:
Laboratory test include:
- Blood gases
- Routine urine test to check elevated porphyrins
- Blood tests for high levels or porphyrins
- Stool for porphyrins
Genetic test confirm the diagnosed.
What are the complications of porphyrias?
- High blood pressure
- Dehydration
- Chronic kidney failure
- Liver failure
- Dyspnea (difficulty in breathing)
- Permanent hair loss
- Hyponatremia (Low sodium level in plasma)
- Coma
How is porphyria managed?
There is no cure of porphyria but different medication is used to treat acute attack of porphyria, which include:
- Stop medication which causes porphyria
- Pain killer such as acetaminophen to control pain
- Use antibiotic for infections
- Sedatives for insomnia and stress
- Intravenous glucose and fluids
- Stop smoking and alcohol intake
- Activated oral charcoal, help to absorb excess porphyrins from the body
- Remove blood from vein (phlebotomy)
What is the prognosis of porphyria?
Porphyria is life long disease which can’t be cure. Treatment can help to relive signs and symptoms.
References:
- ncbi.nlm.nih.gov
- bbc.co.uk/health
- mayoclinic.com
- betterhealth.vic.gov.au
Filed Under: Hematology
Loading ...
