Medical and financial burden of acute intermittent porphyria

Abstract

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.

Real-world annualized healthcare utilization and expenditures among insured US patients with acute intermittent porphyria (AIP) treated with hemin

“…Sudden death, presumably from cardiac arrhythmia, may also occur during an acute attack 13 . Although only 3-5% of AIP patients suffer from recurrent, severe attacks 1 , the symptoms of attacks are similar between patients with and without recurrent disease 7 .…”

“…Symptomatic AIP patients suffer from intermittent, mild attacks, or acute, moderate to severe non-specific attacks 6 . Acute AIP attacks often result in a high amount of healthcare resource utilization including emergency room (ER) visits and inpatient hospitalizations 7,8 . However, due to vague and non-specific symptomatology, an AIP attack is often misdiagnosed, therefore, confusing the process of disease identification and delaying treatment 9 .…”

“…Symptomatic AIP is associated with long-term complications including peripheral neuropathy, systemic arterial hypertension, chronic kidney disease, chronic liver damage, hepatocellular carcinoma, psychiatric conditions, palpitations, and chronic fatigue 11,13 . The prevalence of chronic medical conditions increases with severity of AIP defined by the number of annual attacks 7 . Some patients experience chronic neuropathic pain, which may account for an increased risk for depression and suicide 13 .…”

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

“…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.…”

Messenger RNA therapy for rare genetic metabolic diseases

“…Approximately 5%–10% of patients suffer from recurrent attacks which persist for many years with a dramatic impact on their quality of life, predisposing them to chronic hypertension,36 renal damage37 and increased incidence of hepatocellular carcinoma 38. Prophylactic haem arginate administration appears to be beneficial to these patients, however progressive tolerance by the activation of HO, thromboembolic disease and iron overload can occur 33.…”