engleski

Angiokeratoma in Fabry disease: diagnostic but not treatment effectiveness marker

Fabry disease (FD) is a rare X-linked recessive disorder caused by mutations in the gene encoding the lysosomal enzyme ?- galactosidase A. The manifestations of FD are progressive and multysistemic, culminating in life-threatening renal, cardiac, and cerebrovascular manifestations. Typical skin lesions are angiokeratomas, that manifest usually at age 5 to 15 years, and could serve as a key diagnostic sign. However, they are not considered as a reliable prognostic marker. Besides, although clinical trials have shown the efficacy of enzyme replacement therapy (ERT), the reports on its effect on skin lesions are scarce and contradictory. We report a 7-year old boy with FD, presented with failure to thrive and marked skin, ocular and renal involvement. Because of the multisystemic nature of FD, ERT with agalsidase beta was commenced, which the boy tolerated well. At 24 months of treatment, he had significantly gained weight and height. His bone age increased from 2 to 4 years. Ocular and renal changes remained stable. Plasma globotriaosylceramide levels, which were elevated at baseline, were significantly reduced. However, angiokeratomas increased in size and number. The boy had not developed any new sign of FD. Although cutaneous signs of FD generally appear during childhood, the diagnosis is often delayed or missed. Our case confirms that vascular skin lesions could serve as a diagnostic sign in FD. However, it does not support angiokeratomas as surrogate marker of the course of the disease or efficacy of ERT.

Fabry disease

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