High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria

Sardh, Eliane; Wåhlin, Staffan; Björnstedt, Mikael; Harper, Pauline; Andersson, D. E. H.

doi:10.1007/s10545-012-9576-9

Cited by 64 publications

(98 citation statements)

References 24 publications

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“…Later, the same group reported on 22 patients with AIP and HCC (Innala and Andersson 2011). Recently, Sardh et al detected 23 primary liver tumours in patients with AHP (Sardh et al 2013). An overview of the major studies on the concomitant occurrence of HCC and AHP is given in Table 2.…”

Section: Discussionmentioning

confidence: 98%

“…Since the first report on the concomitant occurrence of HCC and AIP in 1984, several studies have shown an association between this type of primary liver cancer and the AHPs in Europe (Lithner and Wetterberg 1984;Hardell et al 1984;Bengtsson and Hardell 1986;Tidman et al 1989;Grabczynska et al 1996;Andersson et al 1996;Linet et al 1999;Andant et al 2000;Schneider-Yin et al 2009;Innala and Andersson 2011;Elder et al 2013;Sardh et al 2013). However, some of the aforementioned studies linking HCC to AHP certainly include cases in which there were further risk factors.…”

Section: Discussionmentioning

confidence: 99%

“…Well-known risk factors for the development of HCC include alcohol ingestion, hepatitis B and C virus infection and liver cirrhosis (Hardell et al 1984;Fattovich et al 2004). Several mortality and case-control studies have demonstrated an association between this type of liver cancer and the AHPs in Europe (Lithner and Wetterberg 1984;Bengtsson and Hardell 1986;Kauppinen and Mustajoki 1988;Andersson et al 1996;Linet et al 1999;Andant et al 2000;Schneider-Yin et al 2009;Innala and Andersson 2011;Elder et al 2013;Sardh et al 2013). Concerning other malignant tumour entities, however, systematic studies on their occurrence in AHP patients have not yet been conducted.…”

Section: Introductionmentioning

confidence: 99%

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Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias

et al. 2015

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The porphyrias are a group of inherited metabolic diseases resulting from enzymatic deficiencies of specific haem biosynthetic enzymes. They can be classified as primarily acute and non-acute types. Clinically, the acute hepatic porphyrias (AHPs) are characterised by acute neurovisceral attacks. Patients with AHP may be at increased risk for development of hepatocellular carcinoma (HCC). However, systematic studies on the occurrence of other malignancies in patients with the AHPs have not been performed to date. Here, we studied the development of HCC and distinct malignant tumours in patients with the AHPs registered in a single European porphyria specialist centre. A questionnaire was designed and sent to all individuals (n ¼ 122) diagnosed between 1970 and 2012 of whom a valid address was available (n ¼ 82), requesting information on their personal and family history of cancer. Statistical analysis was performed to calculate incidence, prevalence and relative risk of HCC. To calculate confidence intervals, a Poisson distribution was assumed. Fortynine patients (59.8%) returned a completed questionnaire. Overall, HCC was diagnosed in one female (2.1%), and the remaining patients reported on six distinct malignancies. We were able to confirm that HCC is an important complication in AHP. The patients in our cohort had an approximately 35-fold increased risk of developing HCC, similar to observations in other European countries. In addition, we detected colon, breast, uterine and thyroid cancer as well as lymphoma and a liver metastasis in patients with AHP. However, considering the small number of tumours and patients studied here, the data should be interpreted with caution, and further studies on cancer occurrence in AHP patients will require a multicentre setting.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias

et al. 2015

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“…Most patients lead a normal life and seldom have attacks. However, both symptomatic and latent patients have an increased risk of chronic renal failure with progressive tubulointerstitial nephropathy [27] and hepatocellular carcinoma (HCC) [28]. The significant association between AHP and HCC without underlying liver disease became an important issue [29].…”

Section: Specific Treatmentmentioning

confidence: 99%

Porphyrias: A 2015 update

Karim

Lyoumi²,

Nicolas

et al. 2015

Clinics and Research in Hepatology and Gastroenterology

139

144

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“…Recurrent severe attacks are rare and affect about 5% of patients with acute porphyria; typically recurrent attacks occur in women in association with the menstrual cycle and usually improve after the menopause. Severe attacks may occur more frequently than monthly and can be associated with progressive neuropathy, chronic pain, renal impairment and increased risk of hepatocellular carcinoma (Sardh et al 2013). Frequent attacks result in severe disability, making normal working, family and social life very difficult.…”

Section: Introductionmentioning

confidence: 99%

Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

et al. 2015

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The National Acute Porphyria Service (NAPS) provides acute care support and clinical advice for patients in England with active acute porphyria requiring haem arginate treatment and patients with recurrent acute attacks.This audit examined the benefits and complications of regular haem arginate treatment started with prophylactic intent to reduce the frequency of recurrent acute attacks in a group of patients managed through NAPS. We included 22 patients (21 female and 1 male) and returned information on diagnosis, indications for prophylactic infusions, frequency and dose, analgesia, activity and employment and complications including thromboembolic disease and iron overload.The median age at presentation with porphyria was 21 years (range 9-44), with acute abdominal pain as the predominant symptom. Patients had a median of 12 (1-400) attacks before starting prophylaxis and had received a median of 52 (0-1,350) doses of haem arginate. The median age at starting prophylaxis was 28 years (13-58) with a median delay of 4 years (0.5-37) between presentation and prophylaxis. The frequency of prophylactic haem arginate varied from 1 to 8 per month, and 67% patients were documented as having a reduction in pain frequency on prophylaxis. Only one patient developed clinically significant iron overload and required iron chelation, but the number of venous access devices required varied from 1 to 15, with each device lasting a median of 1.2 years before requiring replacement. Six patients stopped haem arginate and in three this was because their symptoms had improved. Prophylactic haem arginate appears to be beneficial in patients with recurrent acute porphyria symptoms, but maintaining central venous access may prove challenging.

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High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria

Abstract: Acute hepatic porphyria carries a high risk of primary liver cancer above the age of 50 which warrants ultrasound surveillance. Sex distribution and frequency of cirrhosis differs from more common aetiologies of primary liver cancer.

Cited by 64 publications

References 24 publications

Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias

Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias

Porphyrias: A 2015 update

Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

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