Case Of Acute Intermittent Porphyria Research Articles

Porphyria in pregnancy with exacerbation after delivery due to COVID-19

We present a case of acute intermittent porphyria (AIP) diagnosed in a pregnant woman with subsequent exacerbation after delivery due to COVID-19 infection. The patient’s symptoms manifested with acute neurovisceral attacks - abdominal pain followed by flaccid quadriparesis, sensory disturbances, hypertension and disturbance in electrolyte levels. The blood plasma test and a 24-hour urine collection revealed increased levels of urine porphobilinogen, 5-aminolevulinic acid and uroporphyrins, which led to the diagnosis of AIP. The patient received i.v. human hemin with positive outcome. After delivery she was again admitted to the hospital due to abdominal pain and trunk hyperesthesia that occurred after a mild course of COVID-19 infection. The second administration of human hemin led to the improvement of the patient's condition. The aim of this case report is to indicate that even with severe risk factors of AIP such as infection and pregnancy, proper diagnostics can increase the chance of quick recovery.

Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)

We report a case of acute intermittent porphyria in a 19-year-old patient, linked to an unlisted variant of the gene encoding hydroxymethylbilane synthase c.345–2A>C. Given the very low prevalence of porphyria in the general population, diagnosis is rarely made initially and may mainly mimic Guillain-Barré syndrome. Considering this, we provide an overview addressing various ways the disease manifests, paraclinical investigations, pathophysiology, and available therapeutic options. Specifically, human heme therapy in the case of acute crises is nearly unanimous in the literature. However, there is no consensus on the management between crises if the current first line choice treatment, namely givosiran, is not accessible. We report the clinical follow-up proposed for this patient.

A case of acute intermittent porphyria in a pregnant lady with hyponatraemia

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Acute Intermittent Porphyria – A Rare Case with Neurovisceral Symptoms

Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from partial deficiency of the porphobilinogen deaminase affecting the production of heme. It produces acute neurovisceral symptoms. The diagnosis of AIP is difficult. Symptoms are often nonspecific.As the penetrance is low in AIP, positive family history of disease may be absent. So high index of suspicion is required to diagnose AIP. Combination of neurologic and visceral symptoms gives clue to the diagnosis. In December 2018, we have diagnosed a case of Acute intermittent porphyria who presented with acute abdomen, hypertension, tachycardia and convulsion. His urine colour turned to purple red on exposure to sunlight. He had hyponatremia. MRI of brain revealed features of Posterior Reversible Encephalopathy Syndrome (PRES) and EEG was suggestive of focalseizure. Urine porphoblinigen was positive. He was treated with IV glucose, DNS, high carbohydrate diet, newer antiepileptic drug, opioid analgesic, antihypertensive medication and other supportive and symptomatic measures. Ultimately his condition improved gradually and discharged with advice to continue medicine and periodic follow up. JAFMC Bangladesh. Vol 18, No 1 (June) 2022: 94-96

A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria.

Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by a mutation in the hydroxymethylbilane synthase gene. In this work, a case of a 13 year-old Indian female presenting with multi-organ involvement (Neurological: episodic seizures, behavioral abnormalities, acute onset progressive flaccid-motor quadriparesis, multiple cranial nerve palsies, respiratory paralysis, dysautonomia, and posterior reversible encephalopathy syndrome; Gastrointestinal: recurrent attacks of abdominal pain, nausea/vomiting, isolated transaminitis, and acute pancreatitis; and Renal: metabolic alkalosis and refractory dyselectrolytemia) which resulted in significant diagnostic dilemmas. She was eventually diagnosed as a case of acute intermittent porphyria harboring a novel hydroxymethylbilane synthase gene mutation (p.Arg173Trp).

Acute Intermittent Porphyria as a Rare Challenging Neuro-Metabolic Disease; a Case Report.

Porphyria is a challenging metabolic disease due to its heterogeneous presentation symptoms and its difficult diagnosis. Many affected individuals can complain of recurrent neuro-visceral attacks per year, some of which may be persistent and life-threatening, which is confusing if there is no established diagnosis. Although the motor manifestations, autonomic changes and seizure are highly suggestive, the diagnosis is often overlooked and needs confirmatory genetic testing. To the best of our knowledge, the acute intermittent porphyria (AIP) reported in this case, involving severe electrolyte disturbances and rapid severe weakness is a challenging neuro-metabolic case and is extremely rare worldwide. Here, we reported a case of AIP in a young girl who presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache which had started 10 days ago. It seems that the diagnosis of porphyria should be considered particularly in those patients with abdominal complaints associated with electrolyte disturbances, seizures, and severe progressive neuropathy.

SIADH as the initial manifestation of acute intermittent porphyria: A case report

Acute intermittent porphyria (AIP) is a rare autosomal dominant and the most severe form of the inherited hepatic porphyrias, affecting mainly young women. We present the case of an 18-year-old female who presented with severe abdominal pain, purple urine, autonomic dysfunction, and severe hyponatremia, seizures on further evaluation came out to be a case of AIP. This case report is a reminder to keep AIP among the differentials in young female patients with a classic constellation of abdominal urine discoloration syndrome of inappropriate secretion of antidiuretic hormone and autonomic dysfunction.

Acute intermittent porphyria: familial disease cases (clinical observation)

Acute intermittent porphyria is a rare autosomal dominant disorder characterized by excessive accumulation and excretion of porphyrins and their precursors, repeated attacks of neurological and mental symptoms. Due to the rarity of this pathology and the atypical course in the onset, certain difficulties often arise during the initial diagnosis. The main pathogenetic drug is gemin (Normosang), which allows obtaining a stable clinical response and preventing the development of severe changes in the nervous system. This article presents an analysis of a clinical case of acute intermittent porphyria among blood relatives and discusses the effectiveness of targeted therapy.

An extremely rare combination of acute intermittent porphyria and Turner syndrome.

A very rare case of acute intermittent porphyria (AIP) co-existing Turner syndrome (TS) is reported for the first time. A 32-year-old woman was diagnosed with AIP due to recurrent acute abdominal pain, red urine and pathogenic mutation of Hydroxymethyl synthetase (HMBS) gene. At the same time, TS was confirmed by Karyotype analysis results of 46,X,i(X)(q10), which accompanied by primary amenorrhea, elevated serum concentrations of follicle-stimulating hormone (FSH). Since the first attack of AIP, the patient has been increasingly depressed, and Psychiatry identified major depression. Duloxetine was chosen after careful deliberation, and the patient's mood stabilized. AIP had not recurred after half a year. Since sex hormones are the exacerbating factor of acute attack of AIP, sex hormone replacement therapy for TS was not administered. In conclusion, the conditions of AIP co-existing TS are complicate, and the treatment still needs to be improved by multiple disciplines in the follow-up.

The challenge of managing comorbidities: a case report of primary Sjogren's syndrome in a patient with acute intermittent porphyria.

Acute intermittent porphyria (AIP) is a rare inherited metabolic disease associated with heme metabolism. Primary Sjogren's syndrome (PSS) is a common autoimmune disease. The combined presence of AIP and PSS complicates treatment. A rare case of concomitant AIP and PSS is reported in this paper. A 30-year-old woman with AIP had recurrent acute abdominal pain, nausea and vomiting, constipation, persistent chest, back, and waist pain, red urine, positivity for porphobilinogen (PBG) in urine and a pathogenic mutation of the HMBS gene. Two and a half years after she was diagnosed with AIP, she was diagnosed with PSS based on dryness of the eyes and mouth, the elevation of immunoglobulins (IgG and IgA) and positive results on an anti-SS-A antibody test, an anti-SS-B antibody test, Schirmer's test and a labial gland biopsy. A mutation in the HMBS gene was detected in the patient and her cousin, but the patient had more severe AIP and more severe symptoms (such as epilepsy and a limp), which may be related to the co-morbidity of PSS. According to her PSS activity score, the patient had an ESSDAI score of 9 and required systemic treatment. However, potential medications were limited by AIP, so mycophenolate mofetil was eventually added to delay the progression of the primary disease.

Assessment of Conventional Autonomic Function Tests in Patients with Acute Intermittent Porphyria

Background and Aim: To assess the autonomic nerve functions in latent and manifest patients of acute intermittent porphyria. The aim of the present study was to study cardiovascular responses to autonomic nerve functions in patients of acute intermittent porphyria, we also tried to find out the relative sensitivity of the various tests employed to study cardiac dysautonomia in these cases. Methods: The study was carried out on thirty cases of acute intermittent porphyria to assess the cardiovascular reflexes. Twenty five healthy subjects closely matched for age and sex served as control. The cases were diagnosed by modified Watson Schwartz test, the cases of acute intermittent porphyria were divided into three groups. Results: The values of different autonomic nerve function tests were compared with control group and among the different groups of patients. The results were complied, compared and a conclusion was drawn. Immediate heart rate response to standing is more sensitive test than the Valsalva maneuver. Immediate heart rate response to standing is more sensitive and quite reliable which can easily be performed at bed side or even in outpatient departments, the test is simple and non–invasive. In our opinion, the test, beat to beat variation of heart rate to single deep breath is though easy to perform and more understandable, but lacks the sensitivity of other two tests. Conclusion: Significant cardiac dysautonomia is present in asymptomatic group, it is more marked in acute attack group. Immediate heart rate response to standing could be a more sensitive and reliable test in this dysfunction.

An Interesting Case of Acute Intermittent Porphyria Precipitated During Premenstrual Phase

Acute intermittent porphyria is one of the rare, autosomal dominant, hereditary hepatic porphyria due to deficiency of enzyme Hydroxyl Methyl Bilane synthase (HMB synthase) in the haem synthesis pathway. The condition is characterized by acute abdominal pain and neuropsychiatric manifestations. One of the precipitating causes of AIP is menstruation due to high levels of progesterone. We report an interesting case of AIP precipitated during each cycle of menstruation.

Acute intermittent porphyria exacerbation following in vitro fertilization treatment

ObjectivesAssisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment. Case ReportA 35-year-old woman with tubal factor infertility presented to our clinic with persistent low abdominal pain and hyponatremia after transvaginal oocyte retrieval. During admission, she experienced a generalized tonic–clonic seizure attacked following by dark brown color urine. Urinary tests showed elevated porphobilinogen, 5-aminolevulinic acid, uroporphyrin, and coproporphyrin, confirming the diagnosis of acute intermittent porphyria. The patient's condition continued to improve after hemin treatment and rehabilitation. ConclusionNewly onset acute intermittent porphyria during the course of controlled ovarian hyperstimulation for in vitro fertilization is a rare but possible complication. Acute intermittent porphyria should be taken into consideration for persisted unexplained abdominal pain and seriously alerted if accompanied with neurological symptoms. Special tests for acute intermittent porphyria should be taken into consideration for the differential diagnosis of lower abdominal pain after oocyte retrieval.

Challenges in the successful management of a case of acute intermittent porphyria in India

Acute intermittent porphyria (AIP) is a rare metabolic disease involving a defect in haem biosynthesis resulting in the accumulation and excessive secretion of porphyrins and its precursors. Acute attacks present with episodes of severe abdominal pain, nausea, confusion and severe life-threatening seizures. A high index of suspicion is required for the initial diagnosis of AIP.

Late Acute Intermittent Porphyria Attack In A Patient With Type 2 Diabetes

Abstract Background. Acute intermittent porphyria (AIP) is a hereditary metabolic aberration resulting from a partial defect in the activity of the enzyme porphobilinogen deaminase (PBDG) during the course of haeme synthesis. Diabetic metabolism may attenuate the episodes of porphyria related symptoms. Case report. Our subject (male; age 75) was hospitalized one week after onset of diffuse abdominal pain and constipation and overt type 2 diabetes mellitus (DM). The patient’s long history of alcohol intake with acute alcohol consumption 12 days before admission, in the presence of abdominal pain with spectacular remission after oral administration of 5% glucose solution, accompanied by a 2.5 fold increase of urinary porphobilinogen with normal values for porphyrins and urinary lead, and normal full blood count establishes the diagnosis of AIP. Conclusion We describe a case of AIP probably triggered by acute alcohol consumption, with neurovisceral dominant clinical picture mimicking an acute abdomen. Late disease occurrence as first acute episode at older age accompanied by overt type 2 DM, suggests a latent type of AIP in our patient. The appropriate recognition of latent AIP cases in proband’s offspring prevents unnecessary blind surgery when repeated episodes of unexplained abdominal pain occur.

Acute Intermittent Porphyria: A Rare Inborn Error of Haem Metabolism

A 22 year young boy presented with recurrent abdominal pain, generalized weakness & wasting with hypertension in Medicine ward CMCH. Subsequently he was diagnosed as a case of Acute Intermittent Porphyria (AIP). Though not common, any patient with unexplained abdominal crisis specially young with any peripheral or central nervous system dysfunction should raise the clinician's suspicion of being porphyric patient as prompt management can relieve the patient from progressive neurological damage and disability. DOI: http://dx.doi.org/10.3329/medtoday.v25i2.17929 Medicine Today 2013 Vol.25(2): 93-95

Iʼm Not Crazy: A Case of Acute Intermittent Porphyria Diagnosed as Somatoform Disorder

Iʼm Not Crazy: A Case of Acute Intermittent Porphyria Diagnosed as Somatoform Disorder

Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis.

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 with SIADH and Fluctuating Dysautonomia

Three cases of acute intermittent porphyria are reported. While in first case severe pain in abdomen with intermittent exacerbation was the only presentation, the second patient presented as accelerated hypertension and acute abdominal crises in whom the clinical course was characterized by development of deep coma due to inappropriate secretion of antidiuretic hormone before she made complete recovery. The third patient, initially manifested as acute encephalitic syndrome. After initial improvement, she developed features of acute intermittent porphyria i.e. acute abdomen, neuropsychiatric symptoms, and rapidly progressing acute motor neuropathy leading to respiratory and bulbar paralysis. In addition, she developed severe and fluctuating dysautonomia leading to cardiac arrest and fatal termination. The importance of early diagnosis, recognition of autonomic disturbances, prompt treatment and counseling for avoidance of precipitating factors is stressed.