Acute intermittent porphyria and phaeochromocytoma: shared features

Stewart, M F; Croft, Jane C. Ravens; Reed, Paul; New, John P.

doi:10.1136/jcp.2005.032722

Cited by 5 publications

(3 citation statements)

References 10 publications

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“…It is not known whether MIBG accumulates in any specific organ in patients with AIP. False-positive MIBG accumulation in the normal adrenal gland in a patient with AIP has in fact been reported (19). Thus, it seems unlikely that MIBG tends to accumulate in the gallbladder in AIP although there have been no studies confirming this.…”

Section: Discussionmentioning

confidence: 85%

False-Positive Accumulation of Metaiodobenzylguanidine in a Case with Acute Intermittent Porphyria

et al. 2011

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We report a 36-year-old woman presenting with hypertensive encephalopathy followed by bulbar palsy and quadriplegia. After an extensive screening for secondary causes of hypertension, the patient was suspected of having pheochromocytoma due to increased levels of catecholamines in the plasma and the urine, and positive 131 I-metaiodobenzylguanidine (MIBG) accumulation in the gallbladder. However, MIBG accumulation was not reproducible without any tumors accompanying this accumulation in the gallbladder. A diagnosis of acute intermittent porphyria was finally confirmed based on the characteristic pictures, increased urinary excretion of porphobilinogen, and identification of a heterozygous missense mutation of R173W in the hydroxymethylbilane synthase gene. This case highlights a pitfall in utilizing MIBG to detect a source of excessive catecholamine and also suggests the importance of having a complete clinical history and extensive work-up of any possible differential diagnosis. We also review the potential mechanism by which falsepositive MIBG accumulation occurs.

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Section: Discussionmentioning

confidence: 85%

False-Positive Accumulation of Metaiodobenzylguanidine in a Case with Acute Intermittent Porphyria

et al. 2011

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“…In a reported case, porphyria masqueraded into an unnecessary operation because of high metanephrine levels, suggestive of pheochromocytoma. 7 Porphyrias are universally rare diseases, inducing overlooked diagnosis. Especially during emergency settings presenting with a porphyria attack, porphyria is widely acknowledged and treated as acute abdomen.…”

Section: Discussionmentioning

confidence: 99%

A Delayed Diagnosis of Variegate Porphyria, Seen with Verrucous Carcinoma

KAYA¹,

HEYDARİ²,

ALTUN³

et al. 2022

Turkiye Klinikleri J Intern Med

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ABS TRACT Variegate porphyria (VP) is an autosomal dominant porphyria characterized by both cutaneous and neurovisceral symptoms. In this case we discuss a 65-year-old female patient with bullous lesions on hands, lethargy, increased facial hair and darkened facial skin. A form of acute porphyria, VP is caused by mutations in PPOX, a gene that carries instructions for making an enzyme called protoporphyrinogen oxidase. Here, we report a heterozygous mutation of the PPOX gene in a Turkish female VP patient who has been diagnosed with chronic renal failure secondary to porphyria. Porphyria is one of those disease needed to be kept in mind as differential diagnosis. Late diagnosis of this disease would lead to different chronic organ failures as a result of heme accumulation in different tissues and organs. This case, it is a clear reminder for the health care workers to remember the "Primum non no nonocere" rule and also remembering porphyria as a differential diagnosis in longterm attacks and symptoms.

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“…2 The hypertension and tachycardia during the acute attack are thought to be secondary to sympathetic hyperactivity, stimulated by extreme pain, leading to increased production and release of catecholamines. 9 Three-quarters of spontaneous subarachnoid bleeds are due to a ruptured aneurysm, 20% have no identifiable cause and the rest are caused by a variety of rare disorders such as arteriovenous malformations of the brain or spine, arterial dissection, sympathomimetic drugs, tumours or vasculitis. 5 Porphyria has not been recognized as a rare cause.…”

Section: Commentmentioning

confidence: 99%

Acute intermittent porphyria presenting with a subarachnoid haemorrhage

Heyningen

Simms

2008

Ann Clin Biochem

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A 47-year-old man presented with abdominal pain, neck stiffness, severe transient hypertension and unusually dark urine. Cerebrospinal fluid investigations and angiography confirmed the diagnosis of a subarachnoid haemorrhage. Porphyrin studies on the patient and his family demonstrated that the family has acute intermittent porphyria. This is the second case report of an acute hepatic porphyria presenting with a subarachnoid haemorrhage. Acute transient hypertension during the attack of porphyria caused the rupture of an intracranial arterial aneurysm.

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Acute intermittent porphyria and phaeochromocytoma: shared features

Cited by 5 publications

References 10 publications

False-Positive Accumulation of Metaiodobenzylguanidine in a Case with Acute Intermittent Porphyria

False-Positive Accumulation of Metaiodobenzylguanidine in a Case with Acute Intermittent Porphyria

A Delayed Diagnosis of Variegate Porphyria, Seen with Verrucous Carcinoma

Acute intermittent porphyria presenting with a subarachnoid haemorrhage

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