Misdiagnosis in Fabry Disease

Marchesoni, Cintia; Roa, Norma; Pardal, Ana; Neumann, Pablo; Cáceres, Guillermo; Martínez, Pablo; Kisinovsky, Isaac; Bianchi, Silvia; Tarabuso, A; Reisin, Ricardo

doi:10.1016/j.jpeds.2010.02.012

Cited by 75 publications

(66 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The early neurologic manifestations of Fabry disease are initially often subtle and affected children are frequently misdiagnosed as having rheumatism, viral infection, growing pains, "bone problems", psychogenic pain, cryptogenic pain, food intoxication, or non-specific gastrointestinal pain [77]. Although first symptoms appear in childhood, correct diagnosis may be delayed until well into adulthood.…”

Section: Reviewmentioning

confidence: 99%

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

et al. 2011

View full text Add to dashboard Cite

BackgroundFabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include, among others, impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen.MethodsAn international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognized patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain.ResultsWe describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction - the hallmark of early neurologic involvement in this disorder. The clinical course of peripheral pain is summarized, and the importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e.g., angiokeratoma, corneal opacities) and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level can substantially improve the quality of life for patients.ConclusionsOur recommendations can assist in diagnosing Fabry small fiber neuropathy early, and offer clinicians guidance in controlling peripheral pain. This is particularly important since management of pain in young patients with Fabry disease appears to be inadequate.

show abstract

Section: Reviewmentioning

confidence: 99%

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

et al. 2011

View full text Add to dashboard Cite

show abstract

“…However, misdiagnosis is sometimes inevitable if the physician has no experience in recognising and treating FD. There have been several reports of patients suffering from FD being misdiagnosed as familial Mediterranean fever, mucopolysaccharidosis type 1 and familial cavernous cerebral angiomas 3 4 6–8…”

Section: Discussionmentioning

confidence: 99%

“…The most frequent misdiagnosis in FD is rheumatic fever. Previous studies revealed that FD is misdiagnosed as many systemic diseases such as gout, gastro-oesophageal reflux, growing pains, irritable bowel disease and psychogenic diseases 3 4. The frequency of misdiagnosis decreases with the rising awareness of FD.…”

Section: Introductionmentioning

confidence: 99%

Lessons from two cases: is Fabry disease the correct diagnosis?

et al. 2015

View full text Add to dashboard Cite

Fabry disease (FD) is an X linked inherited lysosomal storage disorder with complex multisystem involvement; it is caused by deficiency of the lysosomal enzyme α-galactosidase. Deficient enzyme activity leads to a wide spectrum of clinical manifestations consisting of dermatological, ophthalmological, cardiovascular, and urinary and central nervous system findings. As a result, FD should be considered in the differential diagnosis of many systemic diseases. Diagnosis of FD can arise from careful clinical and instrumental investigations, together with family history data and accurate interpretation of genetic and enzymatic analyses. Lack of knowledge on clinical findings of the disease and inept investigation methods unfortunately result in erroneous diagnosis. We present two patients who were referred to our clinic with a suspicion of ED and finally diagnosed as glycogen storage disorder type III and ornithine transcarbamylase deficiency, respectively.

show abstract

“…Of special note, acroparaethesia and dyshidrosis, as in our patient, may be the most common early presentation of Fabry disease, and practitioners should be careful when evaluating patients with these symptoms. Marchesoni et al [11] reported on the most frequent diagnostic errors in 45 consecutive symptomatic patients with confirmed Fabry disease - the most common misdiagnosis being rheumatic fever. Sometimes, pain attacks in Fabry disease are accompanied by fever, malaise, and elevated erythrocyte sedimentation rate [12]; however, rheumatic fever is characterized by migratory polyarthritis [13].…”

Section: Discussionmentioning

confidence: 99%

Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain

et al. 2010

View full text Add to dashboard Cite

Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent α-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.

show abstract

Misdiagnosis in Fabry Disease

Cited by 75 publications

References 28 publications

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

Lessons from two cases: is Fabry disease the correct diagnosis?

Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain

Contact Info

Product

Resources

About