What are Porphyrins?
Porphyrins are organic molecules that naturally occur in the human body and play a critical role in the respiratory cycle of every cell.
One of the most well-known porphyrins is heme, the pigment found in red blood cells (erythrocytes).
Like all types of porphyrins, heme binds well to metals, such as iron.
Once fully formed, the complex molecule hemoglobin binds oxygen and transports it through the bloodstream to cells, supplying oxygen to all cells, tissues, and organs.
Porphyrias are a group of inherited or acquired disorders caused by the accumulation of porphyrins in the bloodstream. This happens due to a deficiency of the enzyme responsible for incorporating porphyrins into the heme structure.
Porphyrias manifest in various ways, and accordingly, one of the primary classifications is:
- Acute or hepatic porphyrias.
- Cutaneous or erythropoietic porphyrias.
Acute or Hepatic Porphyrias
Acute porphyrias present as severe abdominal pain attacks. Additional symptoms may include dizziness, epilepsy-like seizures, hallucinations, and a rapid heartbeat. Frequent attacks are often accompanied by depression.
These attacks can be triggered by external factors such as medications, alcohol, hormonal imbalances, and, most commonly, infections. Acute porphyria attacks can be life-threatening, making swift diagnosis extremely important.
Cutaneous or Erythropoietic Porphyrias
These porphyrias cause hypersensitivity to sunlight, leading to the appearance of small blisters and wounds that heal poorly and leave scars. Upon sun exposure, patients experience skin pain, followed by blistering that bursts and forms sores.
Diagnosis
Porphyrias are diagnosed by testing for the presence of porphyrins in urine and red blood cells (or blood). Based on the symptoms and the origin of the disease, there are eight types of porphyrias. Depending on the type, which can be either chronic or acute, varying concentrations of porphyrins are found in the bloodstream and urine.
The primary diagnosis involves measuring elevated porphyrin concentrations. Differentiating between the types of porphyrias is done by monitoring the dynamics of increasing or decreasing porphyrin levels.
The most reliable method for precise measurement is high-performance liquid chromatography (HPLC), which can differentiate all eight types of porphyrias and guide appropriate symptomatic and/or systemic therapy.
In the BioDiagnostica laboratory, quantitative determination of porphyrins in urine is performed using the HPLC technique with a fluorescent detector, which is the gold standard for laboratory diagnostics.
This technique enables accurate and reliable quantification of all six porphyrins (uroporphyrin, heptacarboxyporphyrin, hexacarboxyporphyrin, pentacarboxyporphyrin, coproporphyrin 1, and coproporphyrin 2) from a single urine sample.
Patients are required to collect 24-hour urine samples.
If, due to urgency or other objective reasons, a 24-hour collection is not possible, testing can be performed on a spontaneous urine sample.
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