Lina Vencevičienė

Background and Objectives: Although multimorbidity poses many challenges for both individuals and healthcare systems, information on how these patients assess the quality of their healthcare is lacking. This study assessed the multimorbid patients’ satisfaction with their healthcare. Materials and Methods: This cross-sectional study was a part of a project Joint Action—Chronic Diseases and Promoting Healthy Ageing across the Life Cycle and its implementation. The study included 400 patients with arterial hypertension and at least one concomitant chronic disease. Patients completed The Patient Assessment of Care for Chronic Conditions Plus (PACIC+) questionnaire, EuroQol Five-Dimensions—Three-Level Quality of Life questionnaire, and Hospital Anxiety and Depression scale. Results: The mean age of the participants was 65.38 years; there were 52.5% women. The mean PACIC+ 5As summary score was 3.60. With increasing age, participants rated worse on most PACIC+ subscales. Participants who assessed their quality of life as worse were also less satisfied with their healthcare. The presence of three or more concomitant diseases negatively affected PACIC+ scores. Patients with ischemic heart disease and heart failure had lower PACIC+ scores on most subscales, whereas patients with atrial fibrillation had lower scores only on the Agree subscale. The presence of diabetes was not associated with worse PACIC+ scores; moreover, the scores in Assist and Arrange subscales were even better in diabetic patients (3.36 vs. 2.80, p = 0.000 and 3.69 vs. 3.13, p = 0.008, respectively). Patients with chronic obstructive pulmonary disease, asthma, and musculoskeletal disorders showed lower PACIC+ scores. Conclusions: Older age, worse self-assessed health state, presence of three or more diseases, and certain chronic diseases were associated with lower patients’ satisfaction with their healthcare. Personalized healthcare, increasing competencies of primary healthcare teams, healthcare services accessibility, and financial motivation of healthcare providers may increase multimorbid patients’ satisfaction with their healthcare.

Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical activity, and periodic cardiac arrhythmia. Echocardiography revealed left ventricular hypertrophy with normal diastolic function. The patient had experienced acroparesthesia in her upper limbs and abdominal pain since childhood, and in the last decade had experienced mild proteinuria without renal failure. Her renal biopsy was typical for Fabry disease. The patient’s brain magnetic resonance imaging (MRI) (T2 flair) showed white matter hyperintensities lesions. DNA sequencing of the proband, her mother and one of her sons showed a novel GLA gene exon 2 mutation, c.270C>G (p.Cys90Trp). All three patients had decreased α-galactosidase A activity and specific FD manifestations. Conclusions: A novel GLA mutation, c.270C>G (p.Cys90Trp), was found in a Lithuanian family with a classical form of Fabry disease in heterozygous women with predominant cardiac involvement. However, the exact manifestation of this mutation is still unclear as it is newly reported and further research must be done.