11/16. 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 = 1keywords = abdominal pain (Clic here for more details about this article) |
12/16. 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 = 1keywords = abdominal pain (Clic here for more details about this article) |
13/16. 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 = 1keywords = abdominal pain (Clic here for more details about this article) |
14/16. Acute intermittent porphyria associated with hyperthyroidism.The differential diagnosis of abdominal pain with associated hyponatraemia should include acute intermittent porphyria. Development of hyperthyroidism in a patient with latent porphyria may precipitate an acute attack and increase disease severity. Treatment of hyperthyroidism may prevent recurrent episodes.- - - - - - - - - - ranking = 1keywords = abdominal pain (Clic here for more details about this article) |
15/16. Acute intermittent porphyria first diagnosed in the third trimester of pregnancy. Case report.Acute intermittent porphyria (AIP) is a rare disorder of heme metabolism, which usually presents with abdominal pain, gastrointestinal symptoms and autonomic nervous system disturbances. Exacerbations first presenting during pregnancy can mimic various neuropsychiatric disorders and presents a challenging diagnosis. Furthermore, factors precipitating AIP attacks may be associated with pregnancy, including exposure to certain drugs, hyperemesis gravidum induced starvation, dieting and infection. The present case demonstrates the need for a high level of suspicion in order to diagnose this disorder in pregnancy and prevent further morbidity.- - - - - - - - - - ranking = 1keywords = abdominal pain (Clic here for more details about this article) |
16/16. Yeast, creatinine and false diagnosis of porphyria.A distressingly common occurrence is the erroneous diagnosis of hepatic porphyria in patients with chronic abdominal pain in which either urinary porphyrins are elevated and/or Watson-Schwarz test is positive. This work investigates a characteristic case and points at possible pitfalls in establishing a diagnosis. In the patient described, spot urine analysis showed positive Watson-Schwarz test and increased porphyrins at three separate occasions, while normal values of precursors and porphyrins were recorded in 24-hrs. urinary collections during four hospitalization periods for acute abdominal pain. Various colorimetric and HPLC methods employed excluded the diagnosis of porphyria and led to resolving the discrepancy between home and hospital results. It was found that the false increase in porphyrins in the spot samples emerged from a substance present in yeast tablets which the patient was consuming. The positive Watson-Schwarz test obtained was probably the result of the fact that the urine samples were concentrated with creatinine values exceeding 400 mg%. The case reported above, as well as studies carried out in three healthy volunteers and in an AIP patient, led to the conclusion that in order to obtain reliable result, 24-hrs. urinary collections should be examined, rather than spot urine samples.- - - - - - - - - - ranking = 2keywords = abdominal pain (Clic here for more details about this article) |
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