Porfyrisykdommer i Norge

Mykletun, Mira; Aarsand, Aasne K.; Støle, Egil; Villanger, Jørild Haugen; Tollånes, Mette Christophersen; Baravelli, Carl Michael; Sandberg, Sverre

doi:10.4045/tidsskr.13.0649

Cited by 23 publications

(14 citation statements)

References 20 publications

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“…AHP mutation data were not available in our study, but the nine PLC cases were not from Northern Norway, and one case had variegate porphyria. Both Sweden and Norway have small populations, a relatively high prevalence of acute intermittent porphyria and national diagnostic porphyria centres, which have a good coverage of at least most manifest cases of AHP [3,4]. The generally higher incidence rates reported from our study as well from Swedish studies may thus be related to a better coverage of AHP cases within the respective study populations, rather than mutation-specific properties.…”

Section: Comparison With Previous Studiesmentioning

confidence: 44%

“…NAPOS keeps a record of both patients with manifest porphyria disease and predictively tested cases without reported porphyria-related symptoms, hereafter referred to as genetically predisposed cases [3]. Porphyria diagnosis is derived from biochemical and/or DNA analyses conducted at the Laboratory for Clinical Biochemistry and the Center for Medical Genetics and Molecular Medicine at Haukeland University Hospital.…”

Section: Study Population and Case Definitionsmentioning

confidence: 99%

“…Manifest disease typically does not present before adulthood, is more common in women [1] and is characterized by acute neurovisceral attacks and/ or skin lesions in variegate porphyria and hereditary coproporphyria. Acute intermittent porphyria has an estimated prevalence in Norway of one in 14 000 [3]. In European countries, the prevalence of variegate porphyria and hereditary coproporphyria is estimated at one in 30 000 and less than one in 50 000, respectively [4].…”

Section: Introductionmentioning

confidence: 99%

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Acute hepatic porphyria and cancer risk: a nationwide cohort study

et al. 2017

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Section: Comparison With Previous Studiesmentioning

confidence: 44%

Section: Study Population and Case Definitionsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Acute hepatic porphyria and cancer risk: a nationwide cohort study

et al. 2017

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“…The prevalence of symptomatic disease is estimated to be 1 in 10 000. 1,2 The condition exists in both a familial and sporadic subtype. Compared with 25% of cases worldwide, about 50% of cases of PCT in Norway are hereditary because of two founder mutations.…”

mentioning

confidence: 99%

A skin disease, a blood disease or something in between? An exploratory focus group study of patients' experiences with porphyria cutanea tarda

et al. 2014

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BackgroundPorphyria cutanea tarda (PCT) is characterized by fragile skin with blistering on sun-exposed areas. Symptoms typically develop in late adulthood and can be triggered by iron overload, alcohol intake, oestrogens and various liver diseases. Treatment consists of phlebotomy to reduce iron, or increasing urinary porphyrin excretion by administering chlorochin. To optimize patient care, health personnel need to understand the subjective experiences of PCT.ObjectivesTo explore the experiences of persons with PCT with regard to symptoms, treatment, follow-up and prevention of the disease.MethodsInterpretive description was used as a qualitative approach. Twenty-one participants attended three focus groups. All participants had experienced PCT symptoms during the last 5 years.ResultsParticipants' experiences varied from trivializing symptoms and fragile skin to what was described as a desperate situation, with huge blisters, skin falling off and feeling as if one was in a ‘horror movie’. For some, itching was very troublesome, preventing sleep and delaying skin healing. In managing PCT a shift in focus from skin to blood was described. PCT was perceived as a chronic and systemic disease causing a range of health problems. Strategies for preventing symptoms ranged from doing nothing to frequent controls and check-ups.ConclusionsParticipants had a systemic perception of PCT, and a tendency to attribute a range of health problems to the condition. This study adds insight into the experiences patients have with PCT.

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“…The disease fPCT is inherited in an autosomal dominant way with reduced penetrance (21,22). The prevalence of symptomatic PCT varies geographically, with a prevalence in Sweden and Norway of 1 per 10,000 (23,24). We identified 650 patients with PCT in the period 1989 to 2013, which corresponds to ~1 per 10,000 inhabitants.…”

Section: X-linked Dominant Protoporphyriamentioning

confidence: 99%

Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989–2013

Christiansen¹,

Aagaard²,

Krag³

et al. 2016

Acta Derm Venerol

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Porphyrias are rare diseases caused by altered haem synthesis leading to the accumulation of different haem intermediates. Neurovisceral attacks may occur in acute porphyrias, while photosensitivity is the presenting symptom in cutaneous porphyrias. We present here an overview of symptoms and a flowchart for the diagnosis of cutaneous porphyrias, with recommendations for monitoring and an update of treatment options. From the Danish Porphyria Register, we present the incidences and approximate prevalences of cutaneous porphyrias within the last 25 years. A total of 650 patients with porphyria cutanea tarda were identified, 73 with erythropoietic protoporphyria, 9 with variegate porphyria, 4 with hereditary coproporphyria and one with congenital erythropoietic porphyria. The total incidence of all porphyrias was ~0.52/100,000 per year.

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Porfyrisykdommer i Norge

Cited by 23 publications

References 20 publications

Acute hepatic porphyria and cancer risk: a nationwide cohort study

Acute hepatic porphyria and cancer risk: a nationwide cohort study

A skin disease, a blood disease or something in between? An exploratory focus group study of patients' experiences with porphyria cutanea tarda

Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989–2013

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