Correct diagnosis of Fabry Disease is difficult in childhood unless of the condition within family history is well known. Family screening is also proving to be a successful detection method. Otherwise, diagnosis is not usually achieved until the late teens when a rash becomes visible on the lower back or signs of other organ involvement are reported such as proteinuria, palpitations or neurological manifestations.
Due to the large number of organs affected, a significant number of present themselves initially to organ-specific physicians. A wide range of consultations and investigations can be required with a variety of physicians before definitive diagnosis is made. The rarity of the condition can compound this problem.
Definitive diagnosis is typically made when one clinician considers the patient complaints based upon the collective involvement of the various affected organs. This is then confirmed by blood tests.
A DNA test is essential to confirm the diagnosis of all cases, where a mutation analysis will demonstrate the alpha-galactosidase A deficiency.
Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, usually only considered in male foetuses. In addition, the existence of atypical variants complicates genetic counselling.
In Ireland, consultation and medical advice to all aspects of Fabry is provided at the National Centre for Inherited Metabolic Diseases, Metabolic Unit, Children’s University Hospital, Temple Street, Dublin 1.