Acute porphyria is a rare group of genetic disorders characterized by defects in the heme synthesis pathway, resulting in the buildup of certain chemicals called porphyrins in the body. These porphyrins are essential in the production of heme, a crucial component of hemoglobin in red blood cells.
This disorder is classified as "acute" because it typically manifests in sudden and severe attacks of symptoms that can be life-threatening if not properly managed. There are four main types of acute porphyria, including acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALAD-deficiency porphyria (ADP).
During an acute porphyria attack, a person may experience a range of symptoms, including severe abdominal pain, nausea, vomiting, constipation, muscle weakness, fatigue, rapid heartbeat, high blood pressure, respiratory distress, seizures, and mental health disturbances. These symptoms often occur without warning and may be triggered by various factors such as certain medications, hormonal changes, fasting, stress, or alcohol consumption.
Diagnosis of acute porphyria involves a combination of clinical evaluation, examination of biochemical markers, and genetic testing. Treatment primarily involves managing symptoms during an attack and taking preventive measures to minimize future episodes. This may involve intravenous administration of glucose, medications to relieve pain and nausea, and hemin infusions to reduce the buildup of porphyrins. In some cases, long-term treatment with specific medications or regular hemin infusions may be necessary to prevent recurrent attacks.
Overall, acute porphyria is a rare inherited disorder that requires ongoing management and medical supervision to prevent severe complications and improve the quality of life for affected individuals.
