1/17. 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.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/17. Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.Variegate porphyria is a rare disease caused by a deficiency of protoporphyrinogen oxidase. In most cases, the clinical findings are a combination of systemic symptoms similar to those occurring in acute intermittent porphyria and cutaneous lesions indistinguishable from those of porphyria cutanea tarda. We report on a 24-year-old woman with variegate porphyria who, after intake of lynestrenol, developed typical cutaneous lesions but no viscero-neurological symptoms. The diagnosis was based on the characteristic urinary coproporphyrin and faecal protoporphyrin excretion patterns, and the specific peak of plasma fluorescence at 626 nm in spectrofluorometry. Biochemical analysis revealed that most of the family members, though free of clinical symptoms, excrete porphyrin metabolites in urine and stool similar to variegate porphyria, accompanied by a significant decrease of porphobilinogen deaminase activity of a range which is ordinarily found in patients with acute intermittent porphyria only (approximately 50%). These data first led to the assumption of two separate and independently inherited genetic defects, similar to the dual porphyria of Chester. Molecular analysis, however, revealed only a missense mutation of the protoporphyrinogen oxidase gene, but not of the porphobilinogen deaminase gene. Thus, in the family presented, porphobilinogen deaminase deficiency is likely to be a phenomenon secondary to the genetic defect of protoporphyrinogen oxidase.- - - - - - - - - - ranking = 469.62315655674keywords = family, member (Clic here for more details about this article) |
3/17. pregnancy with acute intermittent porphyria: a case report and review of literature.Acute intermittent porphyria (AIP) is an inherited disorder characterized by partial defects in the heme biosynthetic pathway. Although its association with pregnancy is rare, it presents the obstetrician with challenging problems especially in labor management, as one of the obstetrical life line drugs (methergin) is contraindicated for use in these patients. We hereby present a case of AIP who had an uneventful pregnancy with a good neonatal outcome.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/17. Atypical attack of acute intermittent porphyria--paresis but no abdominal pain.We report a case of acute intermittent porphyria (AIP) in a 45-year-old woman. Her first attack occurred at the age of 38. Because of escalating cyclical premenstrual attacks, the following 2 years, depletion of the endogenous sex hormone was considered as haeme arginate treatment proved insufficient. Gonadotropin releasing hormone agonist treatment with low-dose oestradiol add back was quite successful initially but was abandoned after 18 months when progesterone add back precipitated a severe attack. Following hysterectomy and oophorectomy at age 42 and oestradiol add back, a remarkable monthly regularity of attacks ensured periodically but with milder symptoms. Two years after surgery, preceded by six attack-free months, a puzzling symptom-shift occurred, from abdominal pain, back and thigh pain during the attacks, to solely severe distal extensor paresis in the arms. Haeme arginate treatment interrupted the progress of the paresis almost immediately and motor function improved considerably up to the 9-month follow-up. Electrophysiological examination revealed only motor neuropathy, consistent with axonal degeneration. Subsequently the symptoms changed yet again, to sensory disturbances with numbness and dysesthesia as the primary expression followed by rather mild abdominal pain. However, cyclical attacks occurred, despite absence of endogenous ovarial hormone production, possibly attributable to impaired oestrogen metabolism in the liver, or adrenal oestrogen production. Treatment comprising oophorectomy, low-dose oestradiol add back and haeme arginate infusion for 2 days on the appearance of early AIP symptoms is now quite successful affording improvement in life quality.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/17. Acute intermittent porphyria associated with ovarian stimulation. A case report.BACKGROUND: Induction of ovulation in the course of infertility treatment is increasingly commonplace in the 21st century. As a consequence, it can be expected that previously unrecognized complications of the procedure will be reported. CASE: A 36-year-old woman presented with severe pelvic pain and hyponatremia after ovarian stimulation with gonadotropins. After admission with a presumptive diagnosis of ovarian hyperstimulation syndrome, a further family history revealed acute intermittent porphyria. A 24-hour urine collection confirmed the diagnosis. CONCLUSION: Hormonal therapy for induction of ovulation in the course of infertility treatment may precipitate attacks of acute intermittent porphyria. A careful history must be undertaken prior to administration of such hormonal preparations.- - - - - - - - - - ranking = 232.83169550173keywords = family (Clic here for more details about this article) |
6/17. liver transplantation as a cure for acute intermittent porphyria.Acute intermittent porphyria occasionally causes frequent and crippling acute neurovisceral attacks associated with increased hepatic production of porphyrin precursors, resulting in long-term damage, poor quality of life, and shortened life expectancy. There has been no cure for this condition, but replacement of deficient hepatic enzymes might restore excretion of porphyrin precursors to normal and prevent acute attacks. We aimed to treat severe acute intermittent porphyria in a 19-year-old woman by liver transplantation. After the transplant, concentrations of haem precursors in the patient's urine returned to normal, and 1.5 years later her quality of life was good. Our report suggests some hope of cure for selected patients with severe forms of this disease.- - - - - - - - - - ranking = 3keywords = life (Clic here for more details about this article) |
7/17. Acute intermittent porphyria.Acute intermittent porphyria (AIP) is characterised by neurovisceral crises the most common clinical presentation of which is abdominal pain. It is an autosomal dominant condition with incomplete penetrance and is potentially life-threatening. The key point in management is to suspect and confirm the diagnosis as early as possible in order to treat the attack and to avoid inappropriate treatments which may exacerbate the crisis. In this chapter we briefly outline the haem biosynthetic pathway and how deficiencies in individual enzymes give rise to the different porphyrias. We then describe the clinical features and diagnosis of AIP, followed by a discussion of pathogenesis, highlighting advances in the molecular biology of AIP and introducing the debate as to whether neurovisceral crises might result from porphyrin precursor neurotoxicity or from haem deficiency. Finally we discuss management, including family screening, avoidance of triggering factors, analgesia, maintenance of a high calorie intake, and administration of haem derivatives.- - - - - - - - - - ranking = 233.83169550173keywords = family, life (Clic here for more details about this article) |
8/17. Clinical indications for the investigation of porphyria: case examples and evolving laboratory approaches to its diagnosis in new zealand.patients with porphyria present in a diverse and unusual variety of ways and most clinicians will see only a few cases, if any, during their professional lives. Porphyria may present (1) with acute symptoms, which may be abdominal pain, neurological or psychiatric; (2) with skin rash or photosensitivity; or (3) with a putative family history. Screening for latent porphyria has been greatly facilitated by fluorescence emission scanning of plasma and by mutational analysis. Our reference laboratory has recently diagnosed several cases of the less common types of porphyria, which we postulate is due to the availability of these methods and to the changing population of new zealand. Accurate screening and diagnosis of porphyria is important, as an acute porphyric attack is life-threatening and preventable. Retrospective diagnosis may be difficult.- - - - - - - - - - ranking = 233.83169550173keywords = family, life (Clic here for more details about this article) |
9/17. Biochemical compared to molecular diagnosis in acute intermittent porphyria.The biochemical and the molecular diagnoses of an inherited porphyria require experience. False positive or negative screening tests and the low penetrance of the disease make a correct diagnosis difficult.The biochemical and the molecular procedures for the diagnosis of acute intermittent porphyria were applied to five unrelated patients suffering from acute intermittent porphyria. All patients were shown to be gene carriers of acute intermittent porphyria by both methods. The two different possibilities of the diagnosis corresponded well. In a family definitively identified by molecular diagnosis of one of the patients and his relatives, the patient's two children were asymptomatic. His son was shown to be a gene carrier of the father's deficiency by biochemical as well as molecular analysis, whereas his daughter was not affected by acute intermittent porphyria.- - - - - - - - - - ranking = 232.83169550173keywords = family (Clic here for more details about this article) |
10/17. abdominal pain due to acute intermittent porphyria: when is the sound of hoof-beats not horses, but zebras? A case report.Acute intermittent porphyria is a rare autosomal dominant hereditary inborn error of metabolism of the heme biosynthetic pathway that can be exacerbated through a multitude of environmental factors. This article is a case study describing the pathophysiology, clinical presentation management, and exacerbation prevention of acute intermittent porphyria. The disease is clinically manifested with severe abdominal pain, confusion, and seizures which may be life threatening. Specific treatment with heme preparations should be instituted as soon as increased excretion of porphobilinogen through urine sampling is confirmed. Supportive treatment includes opiate analgesia, monitoring for and treating complications such as hypertension and hyponatremia. Follow-up should include family counseling regarding genetic defects and individual counseling regarding lifestyle changes including avoidance of environmental factors that have been implicated in the exacerbation of the disease.- - - - - - - - - - ranking = 234.83169550173keywords = family, life (Clic here for more details about this article) |
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