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1/72. Effects of diabetes mellitus on patients with acute intermittent porphyria.

    OBJECTIVES: To study the effects of diabetes mellitus in patients with acute intermittent porphyria (AIP). Haeme deficiency in the liver of AIP patients stimulates an increase in ALA-synthase which triggers an escalating metabolic chain reaction, leading to an increase in the porphyrin content. This reaction can be reduced by treating AIP patients with haeme arginate or with glucose. DESIGN: A population-based study of all patients > 18 years of age having dna-verified AIP (n = 328) living in the two most northerly counties of sweden (Norrbotten and Vasterbotten, with 550,000 inhabitants) of whom 16 had type 2 diabetes. prevalence of diabetes was studied retrospectively in 26 AIP patients with hepatocellular carcinoma (HCC). RESULTS: None of the patients showed symptoms of AIP after the onset of their diabetes. Three patients had had recurrent, severe attacks for many years but when their diabetes became manifest, their urinary ALA and PBG levels decreased and the AIP symptoms resolved, to the relief of the patients. Amongst the 26 AIP patients with HCC, only one with signs of diabetes was identified (impaired glucose tolerance test). CONCLUSIONS: This study raises the possibility that diabetes mellitus may be beneficial for patients with severe AIP. ( info)

2/72. sickle cell trait and acute intermittent porphyria leading to small bowel infarction.

    sickle cell trait patients rarely have crises. A case of co-morbidity with acute intermittent porphyria is described in which trans-mural infarction of the distal ileum secondary to red cell sickling resulted in a fatal outcome. ( info)

3/72. Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report.

    We report the case of a 38-year-old woman with acute intermittent porphyria (AIP). Following the observation of an acute AIP attack in the patient's father, the diagnosis was established after genetic and biochemical examinations. At the age of 29, eight months after delivery of her first and only child, the patient was hospitalized due to a first proven attack of AIP. In the following years she suffered several premenstrual AIP attacks, with clinical symptoms ranging from abdominal pain to paralysis. One attack was accompanied by an increased urinary catecholamine output, strongly indicating adrenergic hyperactivity. The precipitation of acute episodes by secretion of gonadotrophins and a severe hyponatraemia due to a syndrome of inappropriate anti-diuretic hormone secretion indicated hypothalamic involvement in the pathogenesis of AIP. This patient has experienced an evolution of treatment regimens. At first, acute attacks were treated by i.v. hypertonic glucose. Afterwards propranolol was instituted as a maintenance therapy. Later on, i.v. injections of haem arginate were very successful in resolving acute AIP episodes. However, until therapy with an LHRH analogue was started, the patient continued to suffer premenstrual AIP attacks. These LHRH analogues cause hypothalamic inhibition of gonadotrophin secretion, with stabilization of endogenous ovarian steroid production at a low level, and therefore may be effective in preventing acute exacerbations of this disease. Since this patient went on a fixed regimen of an LHRH analogue combined with the lowest dose oestrogen patch her quality of life has improved substantially and she has not required hospitalization, now for over 3 years. ( info)

4/72. Uneventful propofol anaesthesia in a patient with acute intermittent porphyria.

    A patient with acute intermittent porphyria was anaesthetized with propofol as part of general anaesthesia for cholecystectomy. Post-operatively, no clinical sequelae resulted and urinary porphyrins did not exceed pre-operative values. ( info)

5/72. psychotropic drugs in acute intermittent porphyria.

    Acute intermittent porphyria is one of a group of metabolic diseases called the porphyrias that may lead to symptoms of the central nervous system during an acute exacerbation. Certain drugs such as barbiturates are known to precipitate attacks of acute intermittent porphyria, but unfortunately there is little information regarding the safety of many psychotropic drugs in this disorder, especially the newer antidepressants and atypical antipsychotics. We report a case of an elderly patient with acute intermittent porphyria who was treated with a variety of psychotropic agents for a severe depression with psychotic features. Although many of the agents did not improve the psychiatric status of the patient, all the drugs were tolerated without precipitating an episode of acute intermittent porphyria. To our knowledge, this is the first report of the safe use of sertraline, venlafaxine, olanzapine, risperidone, clozapine, buspirone, trazodone, lorazepam, and clonazepam in a patient with documented acute intermittent porphyria. Our report also supports the safety of trifluoperazine. Although response and sensitivity to drugs may vary greatly among patients with this disorder, clinicians may want to consider the possibility of the above drugs to treat psychiatric symptoms in patients with acute intermittent porphyria. ( info)

6/72. Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis.

    Acute intermittent porphyria (AIP) is an autosomal-dominant disease caused by a deficiency of porphobilinogen (PBG) deaminase. patients with AIP present with neurological syndromes such as autonomic neuropathy, peripheral axonal neuropathy or central nervous system dysfunction. We report serial MRI of a patient with AIP who had cortical and subcortical cerebral changes. A 29-year-old woman with a 6-month history of AIP had an attack with severe hyponatraemia and generalised convulsions, treated with haem arginate and supportive therapy. MRI showed central pontine and extrapontine myelinolysis and cortical laminar necrosis. These are not common in AIP, but are likely to have been caused by rapid correction of hyponatraemia and by vasospasm, which could be induced by AIP. ( info)

7/72. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

    Acute intermittent porphyria (AIP) is a low-penetrant, autosomal dominant disorder caused by decreased activity of hydroxymethylbilane synthase (HMBS; MIM 176 000), the third enzyme in the heme biosynthetic pathway. We report the first molecular analysis of HMBS gene mutations in classical AIP patients of German origin. The HMBS gene of 5 German AIP patients was analysed by DGGE-screening and direct sequencing of amplified genomic dna. Five different mutations including four novel mutations were found. Three of them are single base substitutions that affected exon 3 (R16C), exon 10 (V202L), and intron 13 (T to A, IVS13 2) The two remaining mutations are frameshifts which produce a stop codon (del GA in exon 6 and insA in exon 14). These mutations are likely to be responsible for the decrease in HMBS activity found in both erythrocytes and non-erythroid cell lines (lymphocytes). Our results demonstrate the allelic heterogeneity of HMBS mutations in AIP patients of German origin. ( info)

8/72. Acute intermittent porphyria associated with transient elevation of transaminases during an acute attack.

    A 44-year-old woman with acute intermittent porphyria (AIP) was admitted to Kudanzaka Hospital because of abdominal pain. A cholecystectomy was performed in another hospital without improvement. On admission, her transaminases were elevated to greater than 1,000 mU/ml. After an intravenous drip of mainly glucose, her transaminases returned to normal. Her acute attacks occurred during stress, and she died of respiratory failure after repetitive acute episodes. AIP should be included in a list of the differential diagnosis of gastrointestinal diseases, neurosis, and hysteria. This is the first case of AIP accompanied by transient marked elevation of transaminases during an acute attack. ( info)

9/72. Could attacks of abdominal pain in cases of acute intermittent porphyria be due to intestinal angina?

    abdominal pain is by far the most serious symptom in attacks of acute intermittent porphyria. Its cause is unknown. This case study suggests visceral ischaemia as a possible cause of the abdominal pain. A 31-year-old woman with recurrent bouts died during an attack; the autopsy revealed a 20-cm necrotic gangrene in the ileum. A protracted intestinal vasospasm could have been the immediate cause of death. It is discussed whether intestinal angina could be the cause of the abdominal pain in acute intermittent porphyria. ( info)

10/72. Renal symptomatology in patients with acute intermittent porphyria. A population-based study.

    OBJECTIVE: Can renal insufficiency in subjects with acute intermittent porphyria (AIP) be due solely to DESIGN: A population-based study. SUBJECTS: Subjects with AIP > or = 18 years of age (n = 386) in the four most northerly counties of sweden. INTERVENTIONS: Screening with creatinine clearance at 24 h. patients below the lower reference level underwent a repeat clearance test and, if still low, also chromEDTA clearance. RESULTS: 286 (74%) subjects performed the creatinine clearance test and in 57 clearance was low; the second clearance proved normal in 23 who were then excluded. Eighteen subjects with other possible medical reasons for renal insufficiency, ethical reasons or refusing further examinations were also excluded. The 16 remaining subjects with no explanation for their renal insufficiency other than AIP were then studied in detail. All 14 women, mean age 52 years, and two uraemic men, 58 and 67 years, had manifest AIP. Twelve patients had hypertension (HT) and four were normotensive in spite of renal insufficiency. Histological findings of renal biopsies revealed diffuse glomerulosclerotic and interstitial changes with additional ischaemic lesions. CONCLUSION: Protracted vasospasm in attacks of AIP may be a cause of renal lesions. This is discussed. ( info)
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