Acute intermittent porphyria: a test of clinical acumen

Dhital, Rashmi; Basnet, Sijan; Poudel, Dilli Ram; Bhusal, Khema Raj

doi:10.1080/20009666.2017.1317535

Cited by 8 publications

(6 citation statements)

References 12 publications

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“…The clinical presentation of our case was similar to an adolescent boy in Nepal as described by Dhital et al in which the patient dimly recalled precipitation of acute abdomen after the episodes of fasting and low-calorie intake [12]. Fasting induces proliferator-activated receptor γ coactivator 1α (PGC-1α) in the liver that turns on the the expression of ALAS-1 gene [18].…”

Section: Discussionsupporting

confidence: 69%

“…Failure to identify neurovisceral symptoms like muscle weaknesses at an early stage may cause the patient to succumb to respiratory muscle paralysis, an important complication of porphyria which is life-threatening [ 10 , 11 ]. Timely diagnosis is a subject of clinical acuity in the management of porphyria [ 12 ], which also aids in the exemption of alternative diagnosis.…”

Section: Discussionmentioning

confidence: 99%

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Porphyria: a case report

et al. 2022

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Background Prompt diagnosis of metabolic disorders in a resource-limited country like Nepal is daunting. Acute intermittent porphyria is a rare but common hepatic porphyria mostly seen in females of the reproductive age group. As its incidence is quite uncommon, conjectures about porphyria diagnosis are often duped into a diagnostic conundrum. Case presentation Here we unravel a case of a 15-year-old Hindu Nepalese girl distraught by the myriad of symptoms in the setting of severe abdominal pain accompanied by constipation and limb pain as the chief complaints. She presented with acute severe hypertension with marked persistent hyponatremia (up to 109 mEq/L). Despite conservative management of hypertension and electrolytes, unresolved electrolyte imbalance led us to the speculation of disturbance in the renin–angiotensin–aldosterone system. Due to her exacerbating neurovisceral status, she also required intensive care during the disease course. After thorough investigations and exemption of presumed provisional diagnoses, based on sustained symptomatic presentation, the clinical suspicion was driven towards a diagnosis of porphyria-related disorders. Positive Watson-Schwartz test substantiated the diagnosis of acute intermittent porphyria. Her symptoms gradually abated after the consumption of high carbohydrate diets. Conclusion This case highlights the baffling amalgamation of symptoms that simulate common diseases of concern yet are buried in the realm of porphyric disorders. Porphyria can be diagnosed using simple screening tools and timely treatment can diminish serious consequences.

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Section: Discussionsupporting

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Porphyria: a case report

et al. 2022

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“…A novel mutation in porphobilinogen deaminase (PBGD) in exon 15, with insertion of an extra G in position 9205 of the genomic DNA was found in fifteen members of a family who had self-diagnosed AIP and arranged to have their DNA sent to the authors [41]. Another case of AIP in a young male diagnosed on the basis of clinical symptoms, a high urinary PBG and δ amino levulinic acid (ALA) has been reported [42]. Two cases of AIP in 35 yr old males based on clinical symptoms and urinary presence of PBG have also been reported [43,44].…”

Section: Resultsmentioning

confidence: 99%

Case reports of metabolic disorders from Nepal

Pandey

2019

Molecular Genetics and Metabolism Reports

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BackgroundThe prevalence of metabolic disease in Nepal is largely unknown. Some consideration has been given by the nepalese government for high prevalence of congenital disorders in some populations, but disorders due to enzymatic deficiencies have not been considered as a class of diseases where timely diagnosis and intervention might be possible. No case for these disorders has been made so far, however, findings of many rare metabolic diseases have been reported in literature by the nepalese medical fraternity.MethodsA search for case reports on metabolic disorders listed according to International Classification of Diseases −11 was performed using the google search engine.ResultsA total of 443 cases have been discovered presented in the literature. This does not include disorders that might be due to lifestyle and behaviour. Most of the reported cases have been identified based on clinical acumen, radiological and histopathological findings.ConclusionsGlucose 6 phosphate dehydrogenase deficiency, Wilson's disease and lysosomal disorders should be considered for early diagnosis through newborn screening along with the acknowledged disorders hypothyroidism and hemoglobinopathies in Nepal. Early intervention in these disorders can significantly reduce morbidity and mortality in infancy.

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“…The symptoms and signs of AIP may involve multiple organ systems of the body, with the timing and severity of attacks varying among patients. In certain cases, particularly in the absence of timely diagnosis and proper treatment, AIP may lead to life-threatening complications [ 12 ]. It is noteworthy that there is a high degree of variability in AIP symptoms, and all the mentioned symptoms may not be present.…”

Section: Discussionmentioning

confidence: 99%

An Analysis and Literature Review of a Family Case of Acute Intermittent Porphyria With Initial Symptoms of Epileptic Seizure

Lai,

Zhong,

Lai

et al. 2023

Cureus

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Acute intermittent porphyria (AIP) is the most common form of acute porphyria and is characterized by acute onset and recurrent episodes. Clinical presentation frequently initiates with gastrointestinal symptoms and is often misdiagnosed or delayed secondary to nonspecific symptoms. Acute porphyria with epilepsy as the primary symptom is a very unusual or unexpected manifestation. This family case found an unexpected association between acute porphyria and seizures. This patient is a 33-year-old woman whose initial symptom was symptomatic epilepsy, followed by significant abdominal pain. After excluding infection, immunity, and other factors, whole exome sequencing analysis showed the presence of c.22dupG mutation in the HMBS gene and the patient was finally diagnosed with AIP. Her symptoms significantly improved after receiving high-glucose and high-carbohydrate load treatment. This case report is rare and suggests that for patients who experience epileptic seizures coupled with complaints related to the abdomen, the possibility of porphyria should be specially considered in the differential diagnosis.

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Acute intermittent porphyria: a test of clinical acumen

Cited by 8 publications

References 12 publications

Porphyria: a case report

Porphyria: a case report

Case reports of metabolic disorders from Nepal

An Analysis and Literature Review of a Family Case of Acute Intermittent Porphyria With Initial Symptoms of Epileptic Seizure

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