Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up.

[fabry disease]

Introduction : Individuals with neuropathic pain , angiokeratoma (AK ) and /or cornea verticillata (CV ) may be tested for Fabry disease (FD ). Classical FD is characterised by a specific pattern of these features . When a patient presents with a non-specific pattern , the pathogenicity of a variant in the α-galactosidase A (GLA ) gene may be unclear . This uncertainty often leads to considerable distress and inappropriate counselling and treatment . We developed a clinical approach for these individuals with an uncertain diagnosis of FD . Materials and Methods : A document was presented to an FD expert panel with background information based on clinical experience and the literature , followed by an online survey and a written recommendation . Results : The 13 experts agreed that the recommendation is intended for individuals with neuropathic pain , AK and /or CV only , i .e . without kidney , heart or brain disease , with an uncertain diagnosis of FD . Only in the presence of FD -specific neuropathic pain (small fibre neuropathy with FD -specific pattern ), AK (FD -specific localisations ) or CV (without CV inducing medication ), FD is confirmed . When these features have a non-specific pattern , there is insufficient evidence for FD . If no alternative diagnosis is found , follow-up is recommended . Conclusions : In individuals with an uncertain diagnosis of FD , the presence of an FD -specific pattern of CV , AK or neuropathic pain is sufficient to confirm the diagnosis of FD . When these features are non-specific , a definite diagnosis can not (yet ) be established and follow-up is indicated . ERT should be considered only in those patients with a confirmed diagnosis of FD .

Diseases
Validation

Diseases presenting "neuropathy" symptom

adrenomyeloneuropathy

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

focal myositis

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

krabbe disease

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neuralgic amyotrophy

oculocutaneous albinism

pendred syndrome

phenylketonuria

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

wolf-hirschhorn syndrome

This symptom has already been validated