Porphyria
Porphyria is a collection of rare disorders caused by an abnormal buildup of porphyrin in the body. Porphyrin is a substance needed in order for hemoglobin, an essential protein in red blood cells, to function properly. Since hemoglobin combines with iron to carry oxygen throughout the body, any interference with its functioning is dangerous. Elevated levels of porphyrin are, therefore, troubling. Once a patient presents with symptoms of porphyria, it is a chronic disease but can be effectively managed.
Causes of Porphyria
Porphyria in usually an inherited disorder, but may be set off by environmental factors. The condition can also be caused by liver disease or by arsenic or mercury poisoning. More common in women than men, it typically affects patients in their thirties and forties, although the cutaneous form of the disease occasionally presents in infancy or childhood.
Symptoms of Porphyria
There are two basic types of porphyria: acute and cutaneous. The acute form primarily affects the nervous system and the cutaneous form primarily affects the skin. Some patients with porphyria have both sets of symptoms.
Acute Porphyria
Acute porphyria presents as a sudden attack that can be life-threatening. Symptoms can last from 1 to 2 weeks and normally improve gradually after the attack. Symptoms of acute porphyria may include:
- Seizures
- Muscle weakness or pain
- Neuropathy or paralysis
- Mental disturbances or insomnia
- Abdominal pain or distention
- Palpitations or hypertension
- Vomiting, diarrhea or constipation
- Red or brown urine
- Respiratory difficulty
Because of its wide range of symptoms, acute porphyria may be misdiagnosed.
Cutaneous Porphyria
The cutaneous form of this disorder results in skin symptoms in response to an oversensitivity to sunlight and may persist for several days. Symptoms of cutaneous porphyria typically are preceded by exposure to the sun and may include:
- Burning sensation and pain
- Skin redness, swelling and itching
- Long-lasting blisters
- Fragile or discolored skin
- Red or brown urine
- Hair growth in normally hairless regions
In some cases, this disorder can result in necrosis of skin tissue.
Diagnosis of Porphyria
There are several diagnostic tests for porphyria. These include tests to analyze blood, urine and feces, since these substances carry excess porphyrins. Because of the rarity of porphyria, sometimes diagnostic testing is performed by a hematologist. If a patient tests positive for porphyria, genetic testing on family members is also done.
Treatment of Porphyria
Treatment of porphyria depends on the type of the disorder. Acute porphyria must be treated rapidly to prevent serious complications.
Acute Porphyria
Acute porphyria often requires hospitalization. Its treatments may include:
- Medication to control pain, nausea and vomiting
- Elimination of medications thought to have precipitated the attack
- Treatment of illness of infection that may have triggered the attack
- Administration of intravenous fluids to prevent dehydration
- Administration of intravenous glucose to maintain nutrition
Patients with acute porphyria are usually given an injection of hemin, a substance that limits production of porphyrin.
Cutaneous Porphyria
In order to effectively treat cutaneous porphyria, the patient's exposure to sunlight has to be greatly reduced. In addition, in order to lessen the amount of porphyrin in the body, the following steps may be taken:
- Regular blood draws to reduce blood and iron content
- Administration of anti-malarial medications which absorb excess porphyrin
- Administration of beta carotene to increase light tolerance
- Administration of vitamin D to replace that lost by sunlight avoidance
- Elimination of medications that may trigger attacks
Although porphyria usually can't be cured, medical intervention and lifestyle changes can help patients to lessen and manage its symptoms.