Acute Intermittent Porphyria Presenting Research Articles

Adult-onset seizures as the initial presentation of acute intermittent porphyria

Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by the deficiency of enzyme porphobilinogen deaminase used in haeme biosynthesis. Nonspecific abdominal pain is the classical presentation of AIP. Patients rarely present with rapid-onset neurological manifestations such as acute peripheral neuropathy or seizures. The knowledge on the management of seizures in AIP is important as some antiepileptic drugs may exacerbate acute attack. Hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion is a recognised cause of seizures in AIP. We report a case of a 20-year-old woman presenting to a tertiary care hospital in Sri Lanka with seizures due to hyponatremia who was eventually diagnosed with AIP. Although AIP is not frequently reported in Sri Lanka, it’s important to have a strong clinical suspicion as an early diagnosis will reduce mortality and morbidity.

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.

Acute intermittent porphyria (AIP) is an autosomal, dominant, hereditary metabolic disease caused by an inherited deficiency of hydroxymethylbilane synthase (HMBS), a crucial enzyme in the heme biosynthetic pathway. It can affect the central, peripheral, and autonomic nervous systems. We report a 23-year Chinese woman who presented with severe abdominal pain, convulsions, constipation, tachycardia, quadriparesis, and hyponatremia, accompanied by posterior reversible encephalopathy syndrome (PRES). The clinical diagnosis of AIP was made after positive urine Watson-Schwartz test for porphobilinogen (PBG). Genetic testing is important for AIP patients in confirming the diagnosis. We identified a new insertion mutation in intron 14 [c.1005dupC (p.I336Hfs*23)] of the HMBS in her genomic DNA. Timely and accurate treatment of AIP may improve disease prognosis. Key Words: Acute intermittent porphyria, Mutation, Posterior reversible encephalopathy syndrome.

MON-067 A Perplexing Case of Hyponatremia and Abdominal Pain

Previously healthy 20-year-old female presented with diffuse lower abdominal pain, cramping in nature, multiple episodes of emesis as well as urinary frequency. On day 2 of symptoms, she was treated for a urinary tract infection with antibiotics, as well as NSAIDs and opiates for pain relief. Her serum sodium was 133 mmol/L at this time. On day 3 of symptoms, a CT scan of the abdomen was performed however did not reveal pathology. Her serum sodium was 129 mmol/L at this time. She presented to our ED, on day 5 of symptoms, where serum sodium was down to 122 mmol/L. Despite IV fluids, her sodium continued to decrease to a nadir of 117 mmol/L. Further testing, including a serum osmolality of 242 mOsm/kg, urine osmolality of 540 mOsm/kg, and urine sodium of 207 mmol/L, was consistent with a diagnosis of SIADH. Given persistence of abdominal symptoms along with SIADH further imaging studies, including US abdomen, CT brain and Chest XR, were ordered and returned unremarkable. The constellation of SIADH along with persistent abdominal pain, with negative imaging, lead to consideration of acute intermittent porphyria as a diagnosis. Random urine porphobilinogen was found to be elevated to 147.2 mcmol/L (≤ 2.4) leading to the presumptive diagnosis of acute intermittent porphyria presenting as a neurovisceral attack. Biochemical and genetic testing is being pursued to confirm her diagnosis.Acute intermittent porphyria is an autosomal dominant hematologic disorder characterized by deficiency in porphobilinogen deaminase, an enzyme in the heme synthesis cascade. Acute attacks are caused by accumulation of porphyrin resulting in autonomic and peripheral neuropathy which can present as abdominal pain, urinary retention, polyneuropathy, dark urine and psychiatric disturbance. Hyponatremia is present in 25–60% of cases which is caused by SIADH or sometimes renal and gastrointestinal sodium loss. Triggers for acute attacks include medications, starvation, infections, hormonal changes and alcohol. Treatment includes avoidance of triggers, IV dextrose and high carbohydrate diet. In severe attacks, IV hemin is used.Our patient’s urinary tract infection likely triggered her acute symptoms, which was further exacerbated by treatment with NSAIDS and opiates. She developed SIADH which improved with hypertonic saline and fluid restriction.This case illustrates the need to consider acute intermittent porphyria in the differential diagnosis of SIADH presenting with abdominal pain of unknown etiology.

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

BackgroundAcute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.Case presentationWe report a case of 33-year-old male patient who presented with recurrent episodes of severe abdominal pain, nausea, vomiting, constipation and numbness of bilateral lower limb extremities. These nonspecific neurovisceral attacks were subject to medical and surgical misdiagnoses of acute appendicitis, sinus tachycardia, renal calculi, drug-induced acute interstitial nephritis and two episodes of partial intestinal obstruction. The sixth acute attack raised the suspicion of an acute porphyria. Watson and Schwartz test was positive for porphobilinogen in urine. Mutation analysis by DNA sequencing of the extracted DNA of the proband revealed a previously reported missense mutation, c.517C>T encoding p.R173W in the HMBS gene, confirming the diagnosis of Acute Intermittent Porphyria. Four out of five family members who underwent targeted mutation analyses were mutation-positive.ConclusionThe most common clinical presentation of Acute Intermittent Porphyria is abdominal pain with neurovisceral manifestations which are common to several medical, psychiatric and surgical pathologies. This leads to underdiagnosis and misdiagnosis of this disorder, incorrect management, and severe complications. Therefore, a high index of suspicion and awareness of front line laboratory investigations are important for diagnosis. Definitive diagnosis enables implementation of strategies to prevent acute attacks, and also triggers genetic testing and genetic counseling of at-risk family members.

Acute Intermittent Porphyria Presenting as SIADH: A Rare Presentation

Acute Intermittent Porphyria Presenting as SIADH: A Rare Presentation

Acute Intermittent Porphyria in a Child with Severe Neuropathy

Clinical presentation of acute intermittent porphyria before puberty is unusual. We diagnosed the non-erythroid variant form of this disease in a male child, who first presented, at the age of 6 years, with unexplained neurological symptoms and behavioural abnormalities. We also report the successful treatment, and the long-term clinical management.

Acute Intermittent Porphyria Presenting with Periodic Leg Pain

Acute Intermittent Porphyria Presenting with Periodic Leg Pain

Severe Acute Hyponatremia as an Initial Presentation of Acute Intermittent Porphyria Triggered by a Subdermal Etonogestrel Implant

Severe Acute Hyponatremia as an Initial Presentation of Acute Intermittent Porphyria Triggered by a Subdermal Etonogestrel Implant

Acute intermittent porphyria presenting as recurrent limb weakness

Acute intermittent porphyria is a rare autosomal dominant condition of porphyrin metabolism resulting from the half-normal Hydroxy methyl bilane synthase activity. The disorder can present with protean manifestation ranging from acute abdomen, psychosis to gross peripheral neuropathy thus making the diagnosis challenging and misled most of the times. A case of Acute intermittent porphyria with extreme neurological involvement in form of acute onset quadriparesis is presented in this paper.Medical Journal of Shree Birendra Hospital; July-December 2012/vol.11/Issue2/44-45 DOI: http://dx.doi.org/10.3126/mjsbh.v11i2.7910

Acute Intermittent Porphyria Presenting Solely with Psychosis: A Case Report and Discussion

Acute Intermittent Porphyria Presenting Solely with Psychosis: A Case Report and Discussion

Acute Intermittent Porphyria

Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing lethargy, fluctuating seizures, and poor oral intake. He subsequently developed hyponatremia secondary to syndrome of inappropriate antidiuretic hormone secretion. His urinalysis was negative for red blood cells, and a random urine porphobilinogen level was elevated. Further biochemical and molecular testing confirmed the diagnosis of acute intermittent porphyria. His antiepileptic medications were discontinued and hemin administered, with dramatic clinical improvement. The diagnosis of acute intermittent porphyria was challenging because of his underlying neurologic condition. This case highlights the variable presentation of acute intermittent porphyria and emphasizes the importance of considering the diagnosis even in young patients with underlying neurologic conditions when they present with nonspecific neurovisceral symptoms or with unexplained neurologic deterioration.

P.8.a.024 Case-report of acute intermittent porphyria presenting with behavioral disturbances

P.8.a.024 Case-report of acute intermittent porphyria presenting with behavioral disturbances

Acute intermittent porphyria presenting with neurological emergency: Review of six cases

Acute intermittent porphyria presenting with short duration of gastrointestinal symptoms followed by rapidly progressive fulminant neurological syndrome during first attack is relatively uncommon. It is a neurological emergency and mimics many other psychiatric and medical disorders and can be fatal if it remains undiagnosed and untreated. Further, specific treatment in the form of Heme arginate is not universally available and very costly, so high clinical suspicion and early diagnosis and management of acute attack and prevention of further attacks are very important. We report a series of six cases who presented with convulsion and/or polyneuropathy early in the course of disease to highlight this fact.

Initial presentation of undiagnosed acute intermittent porphyria as a rare complication of ovulation induction

To discuss the diagnosis and management of acute intermittent porphyria following ovulation induction. Case report. Academic IVF center. A patient with polycystic ovary syndrome and primary infertility undergoing ovulation induction with clomiphene citrate. Serial phlebotomy, IV fluid, inpatient observation. Condition at discharge. The patient was diagnosed with severe hyponatremia caused by acute volume depletion and possible syndrome of inappropriate antidiuretic hormone secretion, secondary to acute intermittent prophyria, and was successfully managed with supportive measures. Neurovisceral symptoms resolved, and severe hyponatremia was corrected with IV saline solution without complications. Acute intermittent porphyrias are rare complications of ovulation induction, but should be considered in patients who develop unexplained hyponatremia or neurovisceral symptoms.

Acute intermittent porphyria presenting as a diffuse encephalopathy

Although acute intermittent porphyria presents with dramatic neurological findings, the diagnosis is difficult. An 18-year-old woman had a clinical picture of porphyric encephalopathy. Magnetic resonance (MR) imaging demonstrated multiple large contrast-enhancing subcortical white matter lesions, which regressed with glucose and hematin infusions. Diffusion-weighted MR imaging was normal, and MR spectroscopy excluded acute demyelination or tissue necrosis. MR findings of acute intermittent porphyria can differ from those in posterior reversible encephalopathy syndrome by virtue of intense contrast enhancement. Because diffusion-weighted MR imaging and spectroscopy were normal, the lesions are likely caused by reversible vasogenic edema and transient breakdown of the blood-brain barrier.

Acute intermittent porphyria presenting as acute muscle pain, fever, and weakness

Acute intermittent porphyria presenting as acute muscle pain, fever, and weakness

De-novo mutation and sporadic presentation of acute intermittent porphyria

Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder characterised by life-threatening neurovisceral attacks, often precipitated by drugs. Prognosis is improved by presymptomatic diagnosis and counselling. We found that 29 of 103 (28%) unrelated patients presented as sporadic cases. One patient had a de-novo mutation. The same mutation has arisen de novo at least three times in 12% of British AIP families. About 3% (95% CI 1-8%) of all AIP index cases may have de-novo mutations. These findings emphasise the high frequency of sporadic presentation of AIP and indicate the limitations of presymptomatic diagnosis as an aid to management.

A Case of Acute Intermittent Porphyria: A case report

We report a case of acute intermittent porphyria presenting with variable symptoms and signs such as hypertension, polyneuropathy, syndrome of inappropriate secretion of antidiuretic hormone and cerebral infarction. A 47 year-old female patient entered hospital with abdominal pain followed by generalized seizure. She was diagnosed to have acute intermittent porphyria in consequence of Watson-Schwartz test and δ-ALA in 24 hours urine. She was managed with conservative treatment but died of respiratory failure.

Acute intermittent porphyria presenting as epilepsy

Acute intermittent porphyria presenting as epilepsy