Can porphyria be misdiagnosed?
Diagnosis of porphyria is often difficult due to the range of symptoms, which are common in many other disorders, hence frequently leading to misdiagnosis. Attacks can be triggered through sunlight and contact with diverse substances, including medications.
What triggers porphyria attacks?
Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun. Attacks of porphyria can develop over hours or days and last for days or weeks.
How long do porphyria attacks last?
Porphyria attacks typically last 5–7 days [6], although more severe or prolonged attacks can occur, potentially causing paralysis, respiratory failure, and death [7, 8].
What part of the body does porphyria affect?
Porphyria occurs when the body cannot convert compounds called ‘porphyrins’ into heme. While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system. More women than men are affected by porphyria.
Are liver enzymes elevated in porphyria?
As reported by Ohtani et al., there have been reports of acute intermittent porphyria causing a mild increase of the liver enzymes and others that report an elevation of transaminases associated with abdominal pain [6, 7].
How do I get rid of porphyrins?
Treatment may include:
- Injections of hemin, a medication that is a form of heme, to limit the body’s production of porphyrins.
- Intravenous sugar (glucose), or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates.
What are the symptoms of porphyria?
Symptoms of porphyria can vary widely in severity, by type and among individuals. Some people with the gene mutations that cause porphyria never have any symptoms. Acute porphyrias include forms of the disease that typically cause nervous system symptoms, which appear quickly and can be severe.
The bad news is that because porphyria is a rare condition and most patients experiencing an attack for the first time don’t know they carry the mutated gene, misdiagnosis isn’t uncommon.
What tests are used to diagnose porphyria?
Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have. Different tests are performed depending on the type of porphyria your doctor suspects. Tests include a combination of blood, urine or stool testing.
What is included in initial management of porphyria?
While awaiting the report, initial management should be tailored to the possibility of acute porphyria, and include control of pain and other symptom, correcting fluid and electrolyte imbalances, and avoidance of medications that could worsen an attack (such as phenytoin for seizures).
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