Porphyrias

Porphyria is an umbrella name for a number of different diseases that increase the levels of porphyrin in the body, due to the action of various chemicals or compounds. Hemoglobin is a key protein in the blood, with a high content of iron, which transports the oxygen required by every cell in the body. Hemoglobin needs porphyrins in order to function well, but if the levels raise too much they can cause serious health disorders.

The name of this condition comes from porphura, a word meaning purple in Ancient Greek. Porphyrins are needed for the production of heme, which in turn forms hemoglobin. The diseases known as porphyrias start during the synthesis of heme, if there is an imbalance of the enzymes that control the process. The porphyrias diseases are classified based on the area affected. They can be active at skin level, they can impair the nervous system or the liver. In some cases, the disease can affect all of these areas.

The zones most vulnerable to porphyria are the skin, neural network and a number of internal organs. These diseases can have very varied symptoms and their severity can be mild or severe. It has genetic causes and can be passed from parents to kids, in the form of faulty genes. However, it can also start due to exterior factors, even in people with normal genes.

In most cases, porphyria is not curable. Some variants of the disease can be treated, to an extent. A disciplined and healthy lifestyle can also decrease the severity of the symptoms.

What are the symptoms of porphyria?

Porphyria is usually divided in two main types. As the name suggests, cutaneous porphyria is active at skin level, while the acute version of the disease attacks the nervous system. Usually only one form of the condition is encountered but in some cases both can be active at the same time.

Acute porphyrias

Acute porphyrias are very sudden outbreaks that can be very serious or even lethal. These affect the central nervous system. The condition is rare in youngsters and women after menopause also seem to have a lower risk. The acute outbreak usually lasts one week or two, followed by a slow recovery.

Acute porphyria can have many warning signs and effects. It usually causes strong pain of the stomach, legs, chest and back, as well as muscular pain that can lead to numbness, weakness, tingling or even complete paralysis. It can have mental effects, like disorientation, paranoia, confusion or hallucinations. Other mental issues are seizures, insomnia, restlessness, anxiety or depression. Digestive effects include vomiting, constipation, diarrhea or abdominal distention, which is a swollen abdominal area. Among the other possible issues are red or brown urine, irregular breathing, high blood pressure and the sensation of feeling your own heartbeat.

Cutaneous porphyrias

The skin varieties of the disease, cutaneous porphyrias are usually not connected to the nervous issues. These cause problems because the skin becomes very vulnerable to sun damage. This condition can start at a very early age, even during infancy. Outbreaks are typically over after a few days.

The symptoms become active after exposure to direct sunlight. The skin becomes extremely sensitive and gets easily burned not only by the sun but sometimes also by artificial lights. It turns red and inflamed. The skin can become fragile, itchy or covered with blisters that last for weeks and might leave scars or patches of discoloration. Other effects are red or brown urine, as well as faster hair growth.

Treatment options

The first thing to do if you suffer from this condition is to remove any possible external cause. Smoking, alcohol, drugs and various chemicals or toxins are all possible triggers and should be avoided at all costs.

The other symptoms have to be treated using specific medication. Any sign of hyponatremia or hypomagnesemia must be corrected immediately. The muscular issues might affect the diaphragm, which leads to respiratory failure. This is very dangerous and artificial ventilation in a hospital can be required.

Nausea, agitation and vomiting can be treated with phenothiazines, but other drugs such as ondansetron can also be very effective. Normal pain is relieved with parenteral narcotics but very severe cases of chronic pain might require celiac plexus injections.

If the patient is not dehydrated, propranolol or nadolol can be administered for beta blockade. These drugs are safe and can help in cases of hypertension or tachycardia.

Glucose infusions with 10% dextrose must start as soon as possible, with a dose of minimum 300-400 g in the first day. While the infusion can only treat minor outbreaks of the disease, it is a stop gap measure until the much more effective treatment with hemin can be administered.

Food supplements can also be helpful in cases of skin porphyrias. Vitamin D supplements are usually needed because patients are forced to avoid sunlight and can't produce it naturally. Beta carotene can make the skin more resistant to sun and it can be taken daily. Ask your doctor for an advice on the exact type of beta carotene that can help your condition.

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