Although the signs and symptoms of Fabry disease generally appear during childhood, the diagnosis may often be missed. In a recent patient survey, it was shown that the first symptoms occurred around ten years old, however, the average diagnosis is not made until 28 years of age. Cardinal symptoms of Fabry disease in children are usually, both chronic and acute pain in the extremities, lack of or decreased sweating and the characteristic skin lesions, angiokeratomas. The pain may, however, be dismissed as ‘growing pains’, while angiokeratomas may be overlooked during a routine clinical examination, particularly if they are confined to locations such as the backs of the ears. Other symptoms include Hypohidrosis (inability to sweat), GI symptoms that mimic chronic inflammatory bowel disease, recurrent nausea and vomiting, vertigo, tinnitus, headaches, fevers. Fevers occur without the patient sweating.

Cardiac and renal involvement can also begin in childhood, thus early diagnosis and careful monitoring are necessary. Although it is not known when to start children on ERT. It should be made on a case by case basis. It is known that the fatty substance starts to accumulate in utero.

Patients with frequent and severe pain can benefit from prophylaxis with diphenylhydantoin, carbamazepine or gabapentin. Narcotics should be avoided. NSAID’s typically do not offer much pain relief. Pancrelipase or metoclopramide can be helpful with gastrointestinal systems.

ERT has been shown to decrease pain, to reverse abnormal cerebrovascular responses and to deplete storage build-up of GL-3 throughout the body.

There is a lot of discussion underway as to when to start a child/adolescent on therapy. This decision should be made on a case by case basis, between the treating physician and the family.

No clinical studies have been completed in this age category, however, with adults, follow-up studies indicate that the earlier you can treat the patient, the better will be the outcome.

It should be noted that ERT (Fabrazyme in the US) does not have a pediatric indication. However, as of March 1, 2005 , 107 pediatric patients are on ERT. 68 males and 39 females.

• Annick Raas-Rothschild, MD. Michael M. Friedlaender, MD. Galina Pizov, MD. Rebecca Backenroth, MD, MPH. The kidney in Fabry disease. The Journal of Pediatrics January 2005