Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study

Naik, Hetanshi; Stoecker, Mikayla; Sanderson, Saskia C.; Balwani, Manisha; Desnick, Robert J.

doi:10.1016/j.ymgme.2016.08.006

Cited by 71 publications

(82 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In the Norwegian Porphyria Registry, half the participants with AHP reported having chronic symptoms for more than one month, such as fatigue, stomach pain, and muscle weakness, which they ascribed to their AHP. Such findings are also commonly reported in many qualitative and cross-sectional studies in patients who have recurrent acute attacks [10,12,13]. However, such studies lack sufficient control groups.…”

Section: Discussionsupporting

confidence: 77%

“…Persons with symptomatic AHP report low healthrelated quality of life [8][9][10] and high access rates to longterm sick leave and disability pension [1,11]. Persons with more severe recurrent acute attacks further report debilitating chronic symptoms between attacks, such as chronic pain, fatigue and aspects of neuropathy [10][11][12][13], as well as high levels of unemployment [14]. However, it is difficult to determine if such outcomes were increased compared to the general population or may have been confounded by, for instance, age, sex, or socio-economic factors.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study

Baravelli

Aarsand

Sandberg

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background: Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population. Methods: In a nationwide cohort study from 1992 to 2017, records of 333 persons (total person-years = 6728) with a confirmed AHP diagnosis were linked to several national compulsory registries (reference population = 5,819,937). We conducted survival analyses to assess additional risk. Results: Persons with AHP had higher risks of accessing long-term sick leave (adjusted hazard ratio (aHR): 1.5, 95% confidence interval (CI): 1.3, 1.7) and disability pension (aHR: 1.9, CI: 1.5, 2.4). The risk was highest in persons who had been hospitalised for acute attacks, while no additional risk was observed in asymptomatic AHP gene mutation carriers. The median age when accessing disability pension was 45 years, 21 years younger than the general population. AHP was associated with increased risk of mortality due to hepatocellular carcinoma (adjusted mortality rate ratio (aMRR): 84.4, CI: 37.8, 188.2), but no overall increased risk of premature death was observed. Conclusions: Persons with symptomatic AHP were at increased risk of accessing long-term sick leave and disability pension but not of premature death.

show abstract

Section: Discussionsupporting

confidence: 77%

mentioning

confidence: 99%

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study

Baravelli

Aarsand

Sandberg

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Recurrent attacks and chronic pain can have a significant impact on physical and emotional well‐being. Patients with recurrent attacks have a significantly decreased quality of life due to acute attacks, chronic pain, fatigue, anxiety, and depression . Psychiatric evaluation and treatment for coexistent anxiety or depression can provide long‐term benefit.…”

Section: Follow‐up Managementmentioning

confidence: 99%

“…Patients with recurrent attacks have a significantly decreased quality of life due to acute attacks, chronic pain, fatigue, anxiety, and depression. (44,45) Psychiatric evaluation and treatment for coexistent anxiety or depression can provide long-term benefit. Patients with chronic pain may require daily pain medication and are at risk for opioid dependence.…”

Section: Psychiatric Evaluation and Pain Managementmentioning

confidence: 99%

Acute hepatic porphyrias: Recommendations for evaluation and long‐term management

Balwani¹,

Wang²,

et al. 2017

Self Cite

View full text Add to dashboard Cite

The acute hepatic porphyrias (AHPs) are a group of four inherited disorders, each resulting from the deficient activity of a specific enzyme in the heme biosynthetic pathway. They present clinically with acute neurovisceral symptoms which may be sporadic or recurrent, and which, when severe, can be life-threatening. The diagnosis is often missed or delayed as the clinical features resemble other more common medical conditions. There are four major subgroups: symptomatic patients with sporadic or recurrent acute attacks, asymptomatic high porphyrin precursor excretors, and asymptomatic latent patients without symptoms or porphyrin precursor elevations. Given their clinical heterogeneity and potential for significant morbidity with suboptimal management, comprehensive clinical guidelines for initial evaluation, follow-up and long-term management are needed, particularly since no guidelines exist for monitoring disease progression or response to treatment. The Porphyrias Consortium of the NIH’s Rare Diseases Clinical Research Network, which consists of expert centers in the clinical management of these disorders, has formulated these recommendations. These recommendations are based on the literature, ongoing natural history studies, and extensive clinical experience. Initial assessments should include diagnostic confirmation by biochemical testing, subsequent genetic testing to determine the specific AHP, and a complete medical history and physical examination. Newly diagnosed patients should be counseled about avoiding known precipitating factors. The frequency of follow up depends on the clinical subgroup, with close monitoring of patients with recurrent attacks who may require treatment modifications as well as those with clinical complications. Comprehensive care should include subspecialist referrals when needed. Annual assessments include biochemical testing and monitoring for long term complications. These guidelines provide a framework for monitoring patients with AHPs to ensure optimal outcomes.

show abstract

“…Studies that focus specifically on the recurrent patient group are scarce and mainly focus on the group's diminished quality of life and therapeutic interventions in patient series (Marsden et al 2015;Schulenburg-Brand et al 2017). A recent qualitative study focused on the recurrent patient group (Naik et al 2016). They investigated the patients' disease experience and concluded recurring patients have a markedly impaired QoL and often turn to alternative medicine.…”

Section: Discussionmentioning

confidence: 99%

Medical and financial burden of acute intermittent porphyria

Neeleman

Wagenmakers

Koole-Lesuis

et al. 2018

J of Inher Metab Disea

View full text Add to dashboard Cite

IntroductionA small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers.MethodsData from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands. We collected symptoms related to porphyria, porphyria related complications, attack frequency, hospitalisation frequency, hospitalisation days related to acute porphyric attacks, frequency of heme infusions and medical healthcare costs based on hospitalisations and heme therapy.ResultsIn total 11 recurrent AIP cases, 24 symptomatic AIP cases and 53 AIP carriers as controls were included. All recurrent patients reported porphyria related symptoms, such as pain, neurological and/or psychiatric disorders, and nearly all developed complications, such as hypertension and chronic kidney disease. In the recurrent cases group, the median lifelong number of hospitalisation days related to porphyric attacks was 82 days per patient (range 10–374), and they spent a median of 346 days (range 34–945) at a day-care facility for prophylactic heme therapy; total follow-up time was 243 person-years (PYRS). In the symptomatic non-recurrent group the median lifelong number of hospitalisation days related to porphyric attacks was 7 days per patient (range 1–78), total follow-up time was 528 PYRS. The calculated total medical healthcare cost for recurrent cases group was €5.8 million versus €0.3 million for the symptomatic cases group.Electronic supplementary materialThe online version of this article (10.1007/s10545-018-0178-z) contains supplementary material, which is available to authorized users.

show abstract

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study

Cited by 71 publications

References 30 publications

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study

Acute hepatic porphyrias: Recommendations for evaluation and long‐term management

Medical and financial burden of acute intermittent porphyria

Contact Info

Product

Resources

About