Cardiac manifestations of Fabry's disease / 中华内科杂志

ABSTRACT

Objective Fabry' s disease is a rare X-linked recessive disease. Its cardiac manifestations are not well recognized. Methods The data of 3 patients from different Chinese kindreds with Fabry's disease and cardiac manifestations who seeked medical advice in our department in 2007 were analyzed. The age, sex, family history, main symptoms, ECG and echocardiographic findings were recorded for all the patients. The diagnostic criteria of Fabry's disease was based on α-galactosidase (α-GAL) quantity in white blood cells. Results All of the patients were female. Their age was from 41 to 57. Two of them had the typical symptoms of Fabry's disease in their young age. All of them had family history of the disease and cardiac symptoms. ECG showed ST-T change and echocardiography showed hypertrophy of left ventricule of different degrees. Their α-galactosidase level in white blood cells was lower than normal. The α-galactosidase level in patient 1 was the lowest. Her cardiac symptoms were most serious in the three patients and she had involvement of other organs. Conclusion Patients with Fabry's disease may have cardiac manifestations. Family history, typical symptoms in young age and the characteristics of multi-systemic disorder are helpful clues to the diagnosis.