Introduction
Novel Approaches of Therapies in Rheumatology and Autoimmunity
Amyloidosis
POWER STUDY (PORPHYRIA WORLDWIDE PATIENT EXPERIENCE RESEARCH): IMPACT OF PROPHYLACTIC TREATMENT ON CLINICAL BURDEN AND QUALITY OF LIFE AMONG PATIENTS WITH ACUTE HEPATIC PORPHYRIA
Abstract
Background and Aims
Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and complications that negatively impact quality of life. This study evaluated the impact of prophylactic and non-prophylactic treatment on patient-reported outcomes.
Methods
Adult patients from US, Italy, Spain, Australia, Mexico, and Brazil with AHP with >1 porphyria attack within the past 2 years or receiving intravenous hemin and/or glucose for attack prevention completed an online survey between January 19 and April 26, 2021. Descriptive analyses of demographics, health characteristics, and patient-reported outcomes (utilizing Generalized Anxiety Disorder-7 [GAD-7; scale, 0–21] and Patient Health Questionnaire [PHQ-8; scale, 0–24]) were conducted on all patients and separately among those who did and did not receive prophylactic treatment, defined as routine or scheduled hemin, routine or scheduled intravenous glucose, and/or a gonadotropin-releasing hormone agonist. Patients receiving givosiran were excluded.
Results
Ninety-two patients with AHP completed the survey (mean age, 41.1 years; 90.2% female). Prophylactic treatment was used by 38.0% of patients. Participants receiving and not receiving prophylactic treatment reported their current physical (88.6% and 71.9%), emotional (68.6% and 73.7%), cognitive (54.3% and 52.6%), financial (74.3% and 68.4%), and social health (62.9% and 49.1%) as either poor or fair, respectively. Mean GAD-7 and PHQ-8 scores for patients receiving prophylaxis were 10.3 and 12.4, respectively, and for those not receiving prophylaxis were 10.3 and 11.8, respectively.
Conclusions
Regardless of current treatment approach, AHP patients experience high disease burden and decreased quality of life.
PSYCHIATRIC SYMPTOMS DURING BEHCET DISEASE: A PROSPECTIVE MONOCENTRIC COHORT STUDY
Abstract
Background and Aims
Behcet’s disease (BD) is a rare vasculitis involving both veins and arteries. Neurological involvement occurs in 5-50% patients. Psychological symptoms (« psycho-Behcet ») appear to be frequent but few data are available in literature.
Methods
A prospective monocentric cohort study. All BD patients (2013 criteria) underwent a psychometric evaluation including the M.I.N.I. questionnaire (for depressive symptoms), the SCL-90R hetero-questionnaire (a 9-dimension scale of psychiatric symptoms), the MFI20 score for fatigue . Data were correlated with the activity of BD (BDCAF and BSAS) as well as the quality of life QoL (SF-36). Data are given in median [inter-quartile range].
Results
We included 20 patients (16 men, 4 women), median [IQR] 38 years old [30.0-45.5], disease duration 7 years [1.8-11.0]. Five had abnormal brain MRI. The most altered dimensions of the QoL (SF-36) were alterations in general health (35% [27.5-55.0] and perceptions of health change (50% [25.0-68.8]). According to SCL-90 questionnaire, the most represented psychiatric symptoms were: somatization (n=6, 30%), compulsiveness (n=5, 25%), phobia (n=5, 25%) and psychotic symptoms (n=4, 20%). Overall, the median Global Severity Index (GSI) was 0.41 [0.18-0.67] and significantly correlated with general and mental fatigue (MFI20) as well as altered QoL (physical and emotional functioning, pain and general health) (Spearman’s |r|> 0.5 and p< 0.05 for all). There was no difference in the scores between patients with cerebral involvement (n=5) and those without (n=15).
Conclusions
Patient with BD have psychiatric symptoms regardless of neurological involvement, that correlate with altered quality of life.