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5 Απρ 2023 · Symptoms of acute porphyrias may include: Severe pain in the belly, chest, legs or back. Digestive problems, such as constipation, nausea and vomiting. Muscle pain, tingling, numbness, weakness or paralysis. Red or brown urine. Mental changes, such as anxiety, hallucinations or mental confusion.
1 Μαΐ 2023 · Acute intermittent porphyria is a rare autosomal dominant disease characterized by a deficiency of hydroxymethylbilane synthase (HMBS). It presents with abdominal pain, nausea, vomiting, peripheral neuropathy, and seizures.
Major clinical symptoms involve severe abdominal pain, peripheral neuropathy, autonomic neuropathies, and psychiatric manifestations. Symptoms are often heterogeneous and vague, which can lead to life-threatening signs if not treated and managed appropriately.
13 Ιουλ 2020 · Attacks can include symptoms such as: Symptoms can vary greatly including skin symptoms, neurological symptoms, or both. Sun sensitivity including blistering skin is the most common...
5 Απρ 2021 · In an acute porphyria attack, the primary symptom is abdominal pain, due to intestinal dysmotility from autonomic nerve injury. Other manifestations include seizures, weakness and mood changes, point to injury involving peripheral and central nervous system.
Acute intermittent porphyria (AIP) is an uncommon metabolic disease that impacts multiple organs and can manifest in many ways. It is often misdiagnosed due to its nonspecific symptoms. Neurovisceral signs and symptoms should alert physicians to consider AIP in the differential after excluding more common causes.
The symptoms of AIP usually occur as episodes or “attacks” that develop over course of several hours or a few days. Affected individuals usually recover from an attack within days. However, if an acute attack is not diagnosed and treated promptly recovery can take much longer, even weeks or months.
