A group of rare underdiagnosed inherited metabolic disorders, due to defects in heme biosynthesis, this molecule is the most important component of a protein called haemoglobin. Heme allows red blood cells to carry oxygen throughout the body.
The clinical manifestations of acute porphyria are nonspecific, for that reason many patients remain undiagnosed or are diagnosed late. The symptomatology usually includes some of the following components:
1. Severe abdominal pain attack is the most common and frequent initial symptom. It is typically generalized and is accompanied by nausea, vomiting, bloating, constipation, or diarrhea. The pain is typically severe, confused with surgical disorders such as appendicitis.
2. Peripheral neuropathy can manifest as pain in multiple areas such as the back, chest, or extremities. Disorders in sensitivity can develop and progress generating tingling sensations and numbness.
3. It involves the autonomic or central nervous system that can cause changes in mental status, seizures, psychosis, insomnia, and anxiety. Manifestations of the autonomic nervous system include tachycardia, hypertension, and bladder dysfunction with urinary retention, incontinence, and painful urination.
Other data may include brown or reddish urine due to excess in porphyrins or porphobilinogen, misdiagnosed as hematuria (blood in the urine).