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Rationale: Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting heme production due to enzyme porphobilinogen deaminase deficiency. Diagnosing acute intermittent porphyria is difficult because its symptoms interrelate with those of other common diseases. When AIP is combined with seizures, the diagnosis process is more complicated. This case report shows all tests and criteria used to arrive at the final stage of diagnosis., Patient Concerns: The patient complained of severe abdominal pain, nausea, vomiting, and intermittent convulsions. Her medical history shows she had abdominal pain, mainly dull pain in the left upper abdomen., Diagnoses: Different symptomatic tests were done, and the cause of her symptoms was uncertain. A urine sun drying test was then done and confirmed the presence of porphyrin used to diagnose AIP. A genetic test was done after the patient was discharged, and AIP diagnosis was confirmed., Interventions: Acute intermittent porphyria treatment was administered., Outcomes: The patent recovered fully., Lessons: It is essential to consider acute intermittent porphyria diagnosis in patients having unexplained severe abdominal pain associated with neurological and psychiatric symptoms. Since AIP is a rare disease with a high mortality rate when not treated early, Clinical practices should include AIP as one of the tests done on patients showing these symptoms at an early stage. The fastest way to identify this is to conduct a urine test. The change of color from brown to reddish color is a diagnostic indicator of AIP. This strategy helps reduce misdiagnoses and delayed treatment of the right disease., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Rationale: Acute intermittent porphyria (AIP) is a rare genetic disorder that affects porphyrin metabolism in the blood. The disease causes defects in specific enzymes in the body, which in turn leads to the accumulation of porphyrin metabolites. Patients may experience abdominal pain, neurological symptoms, muscle pain, and nausea, but it does not directly cause pancreatitis., Patient Concerns: The patient is a young woman, 23 years old, who was admitted to our hospital with intermittent abdominal pain for 2 days, the pain was not fixed, episodic, with no obvious trigger, and 1 day before admission, the patient started to experience nausea and vomiting, with gastric contents as the vomitus, and similar symptoms had occurred many times in the past. Blood amylase 600 U/L, blood sodium 120.6 mmol/L, blood routine, and coagulation function results were normal; abdominal CT showed pancreatic swelling with unclear surrounding fat interstitial, acute pancreatitis was considered. The patient's urine was dark red, and the results of the qualitative urine porphyrin test were positive., Diagnoses: AIP complicated with acute pancreatitis., Intervention: Relief of symptoms, control of pain, correction of electrolyte disturbances, and high-carbohydrate therapy., Outcomes: The patient was discharged with complete symptomatic relief after 10 days of high-carbohydrate therapy., Lessons: AIP complicated with acute pancreatitis is very rare. Treatment of AIPs aims to control acute attacks and prevent potential triggers., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Introduction: Acute intermittent porphyria (AIP) is a rare and challenging hereditary neurovisceral disease with no specific symptoms. Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome with bilateral reversible posterior gyriform lesions that can be associated with many different conditions, including AIP. Usually, peripheral neuropathy is considered the most common neurological manifestation of AIP. However, AIP should also be considered when seizures and PRES are associated with unexplained abdominal pain., Case Presentation: Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson-Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up., Conclusion: In contrast to other causes of PRES patients, seizure is the most common symptom in AIP patients with PRES. This is a strong diagnostic clue for AIP when ambiguous abdominal pain patients presented with seizures and PRES on brain MRI. A positive prognosis can be achieved with the combination of early recognition, supportive and intravenous hematin therapy, and withdrawal of precipitating factors, including some antiepileptic drugs.

Objective: To identify the genetic etiology of a distinct leukoencephalopathy with autosomal recessive inheritance in a single family., Methods: We analyzed available MRIs and retrospectively reviewed clinical information and laboratory investigations. We performed whole-exome sequencing to find the causal gene variants., Results: We identified 3 family members with a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons. Cerebellar atrophy was noted in advanced disease stages. Clinical features were childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. Whole-exome sequencing revealed compound heterozygous missense variants in the HMBS gene, both associated with the autosomal dominant disorder acute intermittent porphyria. Sanger sequencing of 6 healthy siblings confirmed the bi-allelic location of the variants and segregation with the disease. Patients had a slight and moderate increase in urinary and plasma porphobilinogen and 5'-aminolevulinic acid, respectively, and a 50% to 66% decrease in hydroxymethylbilane synthase enzyme activity compared to normal., Conclusions: Bi-allelic HMBS variants have been reported before as cause of severe encephalopathy with early childhood fatality in acute intermittent porphyria. Our cases demonstrate childhood onset, but milder and slower disease progression in middle-aged patients. With this, a novel phenotype can be added to the disease spectrum associated with bi-allelic HMBS variants: a leukoencephalopathy with early onset, slowly progressive neurologic symptomatology, and long life expectancy., (© 2016 American Academy of Neurology.)

The porphyrias are a heterogeneous group of disorders characterized by abnormal heme biosynthesis. Although all subtypes are rare, acute intermittent porphyria (AIP) is the most common form of the neuroporphyrias. Abdominal pain, peripheral neuropathy, and changes in cognitive function are the classical triad of an acute porphyric attack but the variability of the symptoms may interfere with the diagnosis of AIP. Delayed diagnosis and treatment of acute porphyric attacks, however, can be fatal or may cause long-term or permanent neurological damage. We hereby report a case of 45-year-old male with suicide attempt because of his psychotic symptoms during an AIP attack.

Status epilepticus in patients with acute intermittent porphyria (AIP) are difficult to treat. In this report the author describes a patient with AIP and status epilepticus who was successfully treated with a combination of intravenous magnesium and levetiracetam. This case and the limited experience reported in the literature show that it is probably safe to administer levetiracetam in patients with AIP; however, its role in the treatment of status epilepticus deserves further evaluation.

Acute intermittent porphyria (AIP), resulting from a deficiency of porphobilinogen deaminase (PBGD) in heme biosynthesis, is genetically heterogeneous and manifests with variable penetrance. The clinical outcome, prognosis, and correlation between PBGD genotype and phenotype were investigated in 143 Finnish and Russian AIP patients with 10 mutations (33G-->T, 97delA, InsAlu333, R149X, R167W, R173W, R173Q, R225G, R225X, 1073delA). Thirty-eight percent of the patients had experienced 1 or more acute attacks during their lives. The proportion of symptomatic patients has decreased dramatically from 49% to 17% among patients diagnosed before and after 1980, respectively. Patients with the R167W and R225G mutations showed lower penetrance (19% and 11%, respectively) and recurrence rate (33% and 0%, respectively) than patients with other mutations (range, 36%-67% and 0%-66%, respectively). Moreover, urinary excretions of porphyrins and their precursors were significantly lower in these patients (porphobilinogen [PBG], 47 +/- 10 vs. 163 +/- 21 micromol/L, p < 0.001; uroporphyrin, 130 +/- 40 vs. 942 +/- 183 nmol/d, p < 0.001). Erythrocyte PBGD activity did not correlate with PBG excretion in remission or with the clinical severity of the disease. Mutations R167W and R225G resulted in milder biochemical abnormalities and clinical symptoms indicating a milder form of AIP in these patients. In all AIP patients, normal PBG excretion predicted freedom from acute attacks. The risk of symptoms was highest for female patients with markedly increased PBG excretion (>100 micromol/L). Proper counseling contributed to the prevention of subsequent attacks in 60% of previously symptomatic and in 95% of previously symptom-free patients.

Four forms of porphyria may present clinically with the acute attack, an episodic, severe, and potentially life-threatening manifestation characterized by abdominal and neurologic symptoms. We describe our experience with 112 consecutive attacks observed and treated in 25 patients with the 2 most common forms of acute porphyria in Cape Town, South Africa; 25 attacks in 10 patients with variegate porphyria and 87 attacks in 14 patients with acute intermittent porphyria. The remaining patient experienced more than 100 sequential, severe, and poorly remitting attacks, which are not included in our analysis. In our population, the relative risk of an acute attack in acute intermittent porphyria compared with that in variegate porphyria was 14.3 (confidence intervals, 6.3-32.7). Patients with variegate porphyria were significantly older (median age at first attack, 30 yr) than those with acute intermittent porphyria (median age at first attack, 23.5 yr; p < 0.0001), and demonstrated an equal sex ratio, whereas the male:female ratio in acute intermittent porphyria was 2:12 (p < 0.0001). There was a significant difference in the incidence of factors precipitating the acute attack. Drug exposure was a frequent precipitant of the acute attack in variegate porphyria, whereas hormonal factors were more important in acute intermittent porphyria (p < 0.00001). Patients with acute intermittent porphyria also showed a trend to earlier and more frequent recurrent acute attacks following the initial admission. Mean urine precursor levels, blood pressure, pulse rate, and heme arginate requirement were all significantly higher in patients with acute intermittent porphyria. No significant difference in the frequency of serious complications or in outcome could be shown. We describe our experience with treatment with heme arginate, and provide evidence that heme arginate results in a prompt and statistically significant improvement in symptoms. The incidence of serious complications and mortality in this series was low, confirming a trend to an increasingly good prognosis for patients with acute porphyria who receive expert treatment.

Acute intermittent porphyria (AIP), an autosomal dominant disorder, results from a deficiency of the enzyme hydroxymethylbilane synthase. Despite important advances in the characterization of AIP, the pathophysiology of the neurologic manifestations is not clearly understood. We present a patient with AIP followed for 31 years with multiple episodes of hyponatremia during AIP exacerbations. We discuss the clinicopathologic correlation and possible explanations for the morphologic findings, including discrete hypothalamic changes.

Most antiepileptic drugs (AEDs) available have demonstrated porphyrogenicity in hepatic porphyrias. Gabapentin is a new AED not appreciably metabolized by the liver in humans. We report two patients with acute intermittent porphyria successfully treated with gabapentin without its inducing porphyric crisis.