A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias

Ventura, Paolo; Cappellini, Maria Domenica; Biolcati, G.; Guida, Claudio Carmine; Rocchi, Emilio

doi:10.1016/j.ejim.2014.03.011

Cited by 39 publications

(54 citation statements)

References 88 publications

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“…The accumulation of these products is amplified by certain medications, alcohol, infections, low caloric intake, or hormonal imbalances during menstrual cycle and pregnancy [1]. Although the deficient enzyme and accumulated metabolites are easily detectable, diagnosis is often unsuspected because it is rare and can mimic many other common conditions [4]. Here we present a case of 18-year-old male with recurrent attacks of undiagnosed abdominal pain.…”

Section: Introductionmentioning

confidence: 99%

Acute intermittent porphyria: a test of clinical acumen

Dhital

Basnet

Poudel

et al. 2017

Journal of Community Hospital Internal Medicine Perspectives

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Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care. He improved after infusion of intravenous dextrose. AIP can mimic many common surgical and medical conditions such as appendicitis, cholecystitis, pancreatitis, etc., and may lead to extensive diagnostics or surgical intervention if missed. Diagnosis of AIP requires high clinical suspicion. It should be considered in a patient with recurrent abdominal symptoms, intractable hyponatremia, along with neurological manifestations. Early diagnosis and treatment can prevent recurrent episodes and can potentially be lifesaving.Abbreviations: AIP: Acute intermittent porphyria; ALA: Aminolevulinic acid; PBG: Porphobilinogen

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Section: Introductionmentioning

confidence: 99%

Acute intermittent porphyria: a test of clinical acumen

Dhital

Basnet

Poudel

et al. 2017

Journal of Community Hospital Internal Medicine Perspectives

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“…In practice, appropriate consideration and exclusion of GBS or neuropathy mimics, such as porphyria and lead intoxication, remain essential in the presence of neuropsychiatric manifestations, which should not be assumed to necessarily be GBS‐related. Adequate repeated assessments, maintaining communication, and offering targeted treatment for anxiety, depression, and psychosis, should be considered.…”

Section: Discussionmentioning

confidence: 99%

Neuropsychiatric manifestations in inflammatory neuropathies: A systematic review

2016

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We conducted a systematic literature review on psychological and behavioral comorbidities in patients with inflammatory neuropathies. In Guillain–Barré syndrome (GBS), psychotic symptoms are reported during early stages in 30% of patients. Typical associations include mechanical ventilation, autonomic dysfunction, inability to communicate, and severe weakness. Anxiety and depression are frequent comorbidities. Anxiety may increase post‐hospital admissions and be a predictor of mechanical ventilation. Posttraumatic stress disorder may affect up to 20% of ventilated patients. Sleep disturbances are common in early‐stage GBS, affecting up to 50% of patients. In chronic inflammatory demyelinating polyradiculoneuropathy, memory and quality of sleep may be impaired. An independent link between depression and pretreatment upper limb disability and ascites was reported in POEMS (polyneuropathy, organomegaly, endocrinopathy, M‐protein, skin) syndrome, with an association with early death. Hematological treatment of POEMS appears effective on depression. Published literature on psychological/behavioral manifestations in inflammatory neuropathies remains scarce, and further research is needed. Muscle Nerve 54: 1–8, 2016

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“…In a male with mild pyruvate dehydrogenase deficiency, a high-carbohydrate meal may lead to episodes of ataxia, and there may be associated vomiting and lactic acidosis 28 . On a related note, patients whose attacks are triggered by alcohol intake or certain medications, fasting, or menses in females, and accompanied by significant abdominal pain, would raise suspicion for acute intermittent porphyria 29 .…”

Section: Does Every Child With a Cyclic Vomiting Syndrome Phenotype Nmentioning

confidence: 99%

“…28 On a related note, patients whose attacks are triggered by alcohol intake or certain medications, fasting, or menses in females, and accompanied by significant abdominal pain, would raise suspicion for acute intermittent porphyria. 29…”

Section: Does Every Child With a Cyclic Vomiting Syndrome Phenotype Nmentioning

confidence: 99%

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations

Gelfand

Gallagher²

2015

Headache

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Structured Abstract Background Inborn errors of metabolism are on the differential for patients presenting with a cyclic vomiting syndrome phenotype. Classes of disorders to consider include: mitochondrial disorders, fatty acid oxidation disorders, urea cycle defects, organic acidurias and acute intermittent porphyria. Aim This article reviews the metabolic differential diagnosis and approach to screening for inborn errors in children and adults presenting with a cyclic or recurrent vomiting phenotype. Conclusion Cyclic vomiting syndrome is thought to be an episodic syndrome that may be associated with migraine. It is a diagnosis of exclusion. Inborn errors of metabolism should be considered in the patient presenting with a recurrent vomiting phenotype. Mitochondrial dysfunction may play a role in cyclic vomiting syndrome, and true mitochondrial disorders can present with a true cyclic vomiting phenotype.

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A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias

Cited by 39 publications

References 88 publications

Acute intermittent porphyria: a test of clinical acumen

Acute intermittent porphyria: a test of clinical acumen

Neuropsychiatric manifestations in inflammatory neuropathies: A systematic review

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations

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