[DISEASE BURDEN OP DUCHENNE MUSCULAR DYSTROPHY PATIENTS AND THEIR CAREGIVERS]. / DUCHENNE-FÉLE IZOMDISZTRÓFIÁVAL ÉLO BETEGEK ÉS GONDOZÓIK BETEGSÉGTERHEI.

BACKGROUND AND PURPOSE: Data on the disease burden of Duchenne Muscular Dystrophy are scarce in Hungary. The aim of this study was to assess patients' and their caregivers' health related quality of life and healthcare utilisations. METHODS: A cross sectional survey was performed as part of the European BURQOL-RD project. The EQ-5D-5L and Barthel Index questionnaires were applied, health care utilisations and patients' informal carers were surveyed. RESULTS: One symptomatic female carer, 50 children (boys 94%) and six adult patients (five males) participated in the study, the latter two subgroups were included in the analysis. The average age was 9.7 (SD = 4.6) and 24.3 (SD = 9.8) years, respectively. Median age at time of diagnosis was three years. The average EQ-5D score among children and adults was 0.198 (SD = 0.417) and 0.244 (SD = 0.322), respectively, the Barthel Index was 57.6 (SD = 29.9) and 53.0 (SD = 36.5). Score of satisfaction with healthcare (10-point Likert-scale) was mean 5.3 (SD = 2.1) and 5.3 (SD = 2.9). 15 children were hospitalised in the past 12 months for mean 12.9 (SD = 24.5) days. Two patients received help from professional carer. 25 children (mean age 11.1, SD = 4.4 years) were helped/supervisied by principal informal carer (parent) for mean 90.1 (SD = 44.4) hours/week and further family members helped in 21 cases. Correlation between EQ-5D and Barthel Index was strong and significant (0.731; p < 0.01) as well as with informal care time (-0.770; p < 0.01), but correlation with satisfaction with health care was not significant (EQ-5D: 0.241; Barthel Index: 0.219; informal care: -0.142). CONCLUSION: Duchenne muscular dystrophy leads to a significant deterioration in the quality of life of patients. Parents play outstanding role in the care of affected children. This study is the first in the Central and Eastern European region that provides quality of life data in this rare disease for further health economic studies.

[Successful high-dose low-molecular-weight heparin thromboprophylaxis in pregnant women with antiphospholipid syndrome]. / Nagy dózisú kis molekulatömegú heparinprofilaxis sikere antifoszfolipid szindrómás terhesekben.

INTRODUCTION: Antiphospholipid syndrome is an autoimmune disorder, defined as the association of antiphospholipid antibodies with manifestations of venous or arterial thrombosis or pregnancy loss. Primary antiphospholipid syndrome means that the patients have the same clinical symptoms and laboratory findings but they are not suffering from systemic lupus erythematosus or a closely related autoimmune diseases. Secondary antiphospholipid syndrome occurs in association with autoimmune or other diseases. AIM, METHODS, RESULTS: 31 pregnancies of 10 women are detailed. 22 pregnancies were without thromboembolic prophylaxis and only 2 pregnancies were successful (9.1%). Out of the 9 pregnancies with high dose low-molecular-weight heparin and low dose aspirin thromboprophylaxis throughout pregnancy 8 were successful (88.8%). All the newborns were healthy. In spite of the long-term low-molecular-weight heparin therapy side effects (osteoporosis or heparin-induced thrombocytopenia) were not observed. CONCLUSION: Considering these results high-dose low-molecular-weight heparin and low dose aspirin prophylaxis is recommended for pregnant women with antiphospholipid syndrome throughout pregnancy.