Porphyria is a rare disease caused by excessive porphyrins secretion, which deposits in the body. Porphyria is caused by genetic mutation resulting in malfunction of enzyme, which metabolizes the porphyrin and heme. Porphyrins are normally found in body in lesser quantity. Accumulation and tissue build up of porphyrin causes chronic diseases, mostly affecting skin and nervous system. The signs and symptom of porphyria involves either nervous tissue or skin. Porphyria is an inheritance disease often triggered by environmental factors. Treatment is dependent on type of porphyria. There is no cure for porphyria but symptoms are controlled by alternative and allopathic therapies. Symptoms are tolerable with changes in lifestyle and avoiding factors, which triggers clinical manifestation.
Etiology and Risk Factors of Porphyria
Inherited mutation is the common cause, but in some forms of porphyria, some environmental factors may trigger the development of symptoms.
Common Triggers For Porphyria Include: Drugs (barbiturates and sulfonamide antibiotics, tranquilizers, birth control pills and sedatives), dieting or fasting, smoking, infections, physical and mental stress, alcohol use, hormonal changes during menstruation, exposure to sun and excess iron in body.
Classification and Types of Porphyria
- Acute Porphyria: This type primarily causes symptoms predominantly of nervous system. In some instances, it can cause symptoms in skin as well. These attacks rarely occur before individual reaches puberty and in menopausal females. Symptoms can last for a couple of weeks.
- Cutaneous Porphyria: These type of porphyria causes skin symptoms due to oversensitivity to sunlight and they don't affect the nervous system. There are some types of cutaneous porphyria where the signs and symptoms develop during infancy or childhood.
Signs and Symptoms of Porphyria
- Acute Porphyria symptoms include: inability to sleep, anxiety, severe abdominal pain, constipation, vomiting, pain in extremities, or back, muscle pains, numbness, tingling, weakness, dehydration, excessive sweating, seizure, confusions, hallucination, paranoid feelings, hematuria and hypertension.
- Cutaneous Porphyria symptoms include: Itchiness, erythema, edema, hematuria.
- Serious or Life Threatening Symptoms where the patient should get immediate medical attention are: Acute abdominal pain, which can be accompanied by vomiting and/or constipation, personality changes, low blood pressure (hypotension), appearance of blisters immediately with sun exposure, severe electrolyte imbalances and shock.
- Complications of Porphyria are: Gallstones, paralysis, respiratory failure (due to chest muscle weakness), skin scarring and coma.
Investigations for Porphyria
A lot of sign and symptom of porphyria resemble other more common diseases. As porphyria is a rare condition, many doctors who have not previously seen cases of porphyria make it even more difficult to diagnose it. As the signs and symptoms are not usually distinctive, laboratory tests are done in order to make a definitive diagnosis and to determine the form of porphyria patient has.
The Following Tests Are Done If Porphyria Is Suspected:
- Urine Test helps in detecting raised levels of two substances: porphobilinogen and delta-aminolevulinic acids along with raised porphyrins.
- Blood Test is helpful in case of cutaneous porphyria to detect an elevated level of porphyrins in the blood plasma.
- Blood Gases.
- Comprehensive Metabolic Panel.
- Stool Sample Test may reveal elevated levels of those porphyrins that may not be detected in urine samples. Analysis of stool sample test may also help in determining the specific type of porphyria which the patient has.
- Abdominal Ultrasound.
Treatment for Porphyria
For acute attack of porphyria, hospitalization may be required. The treatment comprises of:
- Stopping medications that may have triggered symptoms.
- IV Hematin.
- Pain killers.
- Propranolol to control the heartbeat.
- Sedatives to help with anxiety and insomnia.
- Immediate treatment of infections or other illness which have triggered the symptoms.
- Intravenous sugar (glucose) to maintain adequate carbohydrate level.
- IV fluids to prevent dehydration.
For Cutaneous Porphyria, The Treatment Comprises Of:
- Beta-carotene supplements
- Medications for malaria such as hydroxychloroquine (Plaquenil) and chloroquine (Aralen).
- Glucose and fluids to maintain adequate carbohydrates.
Lifestyle Changes for Porphyria
Depending on the type of porphyria, the following lifestyle changes will be recommended by your physician:
- Abstaining from alcohol.
- Avoiding those drugs that may trigger an attack.
- Avoiding any damage or injury to the skin.
- Staying away from sunlight as much as possible and using sunscreen whenever outdoors.
- Eating a diet which is rich in carbohydrates.