English summary: HEREDITARY GELSOLIN AMYLOIDOSIS: QUESTIONNAIRE SURVEY OF CLINICAL MANIFESTATIONS AND SATISFACTION WITH LIFE

Hereditary gelsolin amyloidosis is a progressive disease with primarily ocular, neural and cutaneous manifestations. This research was conducted to clarify the clinical picture of the disease and to investigate patients' satisfaction with life and their opinions on some matters concerning heredity of the disease. The data for this research were gathered with a questionnaire posted to some 230 gelsolin amyloidosis patients and their close family members, the latter constituting the control group. 70% of the patients and 48% of the controls returned the questionnaire.

49% of the patients and 70% of the controls graded their health as good or fairly good. Satisfaction with life was graded good or fairly good by 74% of the patients and by 93% of the controls. These differences were statistically significant. As expected, the clinical manifestations in the patients were much more extensive and complicated than in the controls. The patients reported a significantly higher number of ocular symptoms, skin dryness, skin itching, numbness of the limbs, cardiac arrhythmias and chest pain. Other symptoms, such as swellings and cardiac valvular defects, were also more common in the patient group. It was discovered that the patients used some medicines (e.g. cholesterol lowering and blood pressure lowering drugs) significantly more than the controls.

This research revealed that the clinical manifestations of hereditary gelsolin amyloidosis are much more extensive than previously known. This raises questions regarding the causes and underlying pathogenesis of these findings. Symptoms reported by the patients significantly reduced satisfaction with life. Due to the wide spectrum of symptoms and need for extensive specialist care, it is necessary to centralise the treatment of this rare hereditary disease.