Mild ALA increases (twice ULN) can also be explained by certain drugs, heavy metals such as lead, renal disease, and liver disease.28 After confirming an acute porphyric attack, treatment should be started without delay. The type of porphyria does not affect the initial treatment, however, following initiation of treatment, further diagnostic steps should determine the specific type of acute porphyria (AIP, VP, HCP, ALAD). For rare cases with acquired porphyria such as lead intoxication, additional steps such as preventing the patient’s exposure to the toxicant are essential to cure the patient. There are porphyria expert centres in most European countries, where the required diagnostic tests and the interpretation can be performed.29 The ALA/PBG ratio, HMBS enzyme activity in erythrocytes, and plasma (or faeces) porphyrin spectrum can guide clinicians to the correct porphyria type. DNA gene mutation analysis can be used as a confirmation step. If a DNA gene mutation cannot be detected, additional enzyme activity can be measured. The specific DNA gene mutation can be used for family counselling. If no mutation in the coding region can be found, a diagnosis can be confirmed by measuring the appropriate enzyme activity (e.g., erythrocyte/lymphocyte porphobilinogen deaminase activity in AIP).
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