Acute intermittent porphyria

Suárez, José I.; Cohen, Mark L.; Larkin, John C.; Kernich, Catherine A.; Hricik, Donald E.; Daroff, Robert B.

doi:10.1212/wnl.48.6.1678

Cited by 61 publications

(51 citation statements)

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“…In the second place, disorders of ADH secretion can be present. Severe hyponatraemia can occur due to the SIADH provoked by AIP (11,13,14). Also the findings of tachycardia, hypertension, constipation and an increased urinary excretion of catecholamines in our patient, which are indicative of adrenergic hyperactivity, might result from abnormalities in hypothalamic control of the autonomic nervous system (3,15).…”

Section: Discussionsupporting

confidence: 49%

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Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report

Block

Leeuw

Gaal

1999

European Journal of Endocrinology

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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.

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Section: Discussionsupporting

confidence: 49%

“…The pathophysiology of the neurological manifestations of AIP is not yet clearly understood (11). Neurological manifestations may be explained by a deficiency of haem and a corresponding deficiency of cytochrome P450 in neural tissues (4).…”

Section: Discussionmentioning

confidence: 99%

Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report

Block

Leeuw

Gaal

1999

European Journal of Endocrinology

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“…It is most likely a nociceptive type of pain due to ischemia of nerve trunks that ultimately causes the neuropathy. This also explains the quite frequent asymmetrical and proximal distribution of sensory motor signs, typical of a multiple mononeuropathy [57].…”

Section: Heredithary Neuropathiesmentioning

confidence: 86%

Painful Peripheral Neuropathies

Marchettini¹,

Lacerenza²,

Mauri³

et al. 2006

135

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Peripheral neuropathies are a heterogeneous group of diseases affecting peripheral nerves. The causes are multiple: hereditary, metabolic, infectious, inflammatory, toxic, traumatic. The temporal profile includes acute, subacute and chronic conditions. The majority of peripheral neuropathies cause mainly muscle weakness and sensory loss, positive sensory symptoms and sometimes pain. When pain is present, however, it is usually extremely intense and among the most disabling symptoms for the patients. In addition, the neurological origin of the pain is often missed and patients receive inadequate or delayed specific treatment. Independently of the disease causing the peripheral nerve injury, pain originating from axonal pathology or ganglionopathy privileges neuropathies affecting smaller fibres, a clinical observation that points towards abnormal activity within nociceptive afferents as a main generator of pain. Natural activation of blood vessels or perineurial nociceptive network by pathology also causes intense pain. Pain of this kind, i.e. nerve trunk pain, is among the heralding symptoms of inflammatory or ischemic mononeuropathy and for its intensity represents itself a medical emergency. Neuropathic pain quality rekindles the psychophysical experience of peripheral nerves intraneural microstimulation i.e. a combination of large and small fibres sensation temporally distorted compared to physiological perception evoked by natural stimuli. Pins and needles, burning, cramping mixed with numbness, and tingling are the wording most used by patients. Nociceptive pain instead is most often described as aching, deep and dull. Good command of peripheral nerve anatomy and pathophysiology allows timely recognition of the different pain components and targeted treatment, selected according to intensity, type and temporal profile of the pain.

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“…The mechanism underlying the AIP-induced increase in antidiuretic hormone (ADH) levels remains unclear and poorly understood. Hypothalamic damage by ALA accumulation or abnormal heme activity with neuronal loss in the supraoptic and paraventricular nuclei at the level of median eminence was noted (Suarez et al, 1997). The hypothalamic damage may have led to an increase in ADH.…”

Section: Discussionmentioning

confidence: 97%

Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone

Wang

et al. 2015

Annals of Human Genetics

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SummaryAcute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder caused by deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (approved gene symbol HMBS), also known as porphobilinogen deaminase (PBGD). AIP is characterised by intermittent attacks of abdominal pain, vomiting, and neurological complaints. The highly variable symptomatic presentation of AIP causes confusion with other diseases and results in a high misdiagnosis rate (68% in China) and delayed effective treatments. Based on biochemical and genetic analysis of two Chinese families, a new and a previously reported HMBS mutation were identified in patients with AIP and syndrome of inappropriate antidiuretic hormone (SIADH). The novel HMBS mutation is the 655G>C point mutation (A219P). In addition, the 973C>T point mutation (R325X), which had been previously reported in two Danish families, was identified.

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Acute intermittent porphyria

Cited by 61 publications

References 0 publications

Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report

Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report

Painful Peripheral Neuropathies

Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone

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