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Cardiovascular involvement in thalassaemic patients with pseudoxanthoma elasticum-like skin lesions: a long-term
P Cianciulli1, F Sorrentino, L Maffei
1Ospedale S. Eugenio, Day Hospital Talassemie, P.le dell'Umanesimo 10, 00143 Rome, Italy. p.cianciulli@libero.it
Background:
Congenital haemolytic anaemia may be associated with pseudoxanthoma elasticum (PXE)-like clinical manifestations.
Methods:
The cardiovascular system of 14 homozygous and double heterozygous beta-thalassaemia patients with skin and retinal vessel alterations similar to those in genetic PXE was analysed over a period of 12 years and compared with that of 13 relatives (five sets of parents, one single parent, two thalassaemic brothers), and that of the control group composed of 16, age- and sex-matched, thalassaemic patients.
Results:
All patients with clinical PXE-like skin lesions exhibited, by light and electron microscopy, dermal alterations and mineralization of elastic fibres identical to those typical of inherited PXE. None of the relatives and none of the control group showed clinical or structural findings of PXE. The follow-up started in 1988. After 12 years of clinical observation, six patients showed dramatic progression of skin involvement, angioid streaks had progressed in two subjects. One patient had recurrent gastrointestinal bleeding and underwent partial stomach removal for gastric artery aneurysm, one underwent colon resection for intestinal infarct, one patient had a transitory ischaemic attack, one died after an intracranial haemorrhage, two patients died from cardiovascular disease and one from neoplasia.
Conclusions:
Thalassaemic patients with PXE-like skin lesions also manifest PXE-like vessel alterations that progress with time. Considering the severe outcome of these lesions, accurate monitoring should be routinely performed on the cardiovascular system of thalassaemic patients with PXE-like skin manifestations.