eMedicine Specialties > Neurology > Neuro-vascular Diseases

Metabolic Disease and Stroke - Fabry Disease: Differential Diagnoses & Workup

Author: Pitchaiah Mandava, MD, PhD, Assistant Professor, Department of Neurology, Baylor College of Medicine; Consulting Staff, Department of Neurology, Michael E DeBakey Veterans Affairs Medical Center
Coauthor(s): Thomas A Kent, MD, Professor, Department of Neurology, Baylor College of Medicine; Neurology Care Line Executive, Michael E DeBakey Veterans Affairs Medical Center
Contributor Information and Disclosures

Updated: Dec 11, 2008

Differential Diagnoses

Acute Stroke Management
Dissection Syndromes
Basilar Artery Thrombosis
Lacunar Syndromes
Cardioembolic Stroke
Posterior Cerebral Artery Stroke
Cavernous Sinus Syndromes
Transient Global Amnesia

Workup

Laboratory Studies

  • Microscopic examination of urine may show lipid-laden epithelial cells.
  • Electrolyte imbalances reflecting renal failure may be seen.
  • When an acute stroke is suspected on clinical grounds, customary laboratory tests such as determinations of the CBC count, electrolytes, prothrombin time, and activated partial thromboplastin time should be ordered. A search for the etiology of the symptoms should commence.
  • Level of globotriaosylceramide (Gb3 or GL-3) a glycosphingolipid may be elevated.
  • Enzymatic analysis performed by using plasma or leukocytes may show a deficiency of alpha-galactosidase A.
  • Levels of Gb3 and alpha-galactosidase A may be normal in female heterozygote Fabry patients. Therefore, genetic and/or molecular diagnosis is necessary to confirm Fabry disease if suspected based on clinical features of proteinuria and acroparesthesias that were invariably present in both men and women with Fabry mutation and cryptogenic stroke. Men with Fabry mutation tend to have more clinical features when presenting with stroke.

Imaging Studies

  • Cardiomegaly may be readily evident on a chest radiograph.
  • Echocardiography may be indicated to investigate a possible source of emboli. Echocardiograms may reveal valvular abnormalities, ventricular hypertrophy, and flow abnormalities.
  • Brain MRIs or CT scans should be obtained to visualize the site and extent of infarction.
  • MR angiography (MRA), CT angiography (CTA), or four-vessel cerebral angiography should be performed to identify large-vessel dilated arteriopathy, stenosis, or occlusion.
  • In patients with acute ischemic stroke, diffusion-weighted MRI may be used to identify early lesions, and perfusion-weighted MRI can be performed to identify perfusion defects.
  • MR spectroscopy, arterial spin tagged MR imaging, and positron emission tomography (PET) have been performed on an experimental basis to understand the pathophysiology of this disease.

Other Tests

  • ECG may show conduction abnormalities and evidence of previous myocardial infarctions.
  • Nerve conduction studies may show decreased conduction velocities and prolonged distal latencies.
  • Prenatal diagnosis can be made by using samples of chorionic villi and amniotic cells.

Procedures

  • Skin biopsy with cells showing increased lipid content is suggestive of Fabry disease.

Histologic Findings

Lipid-laden cells have been described in endothelial cells, epithelial cells, muscle fibers, and ganglion cells.

More on Metabolic Disease and Stroke - Fabry Disease

Overview: Metabolic Disease and Stroke - Fabry Disease
Differential Diagnoses & Workup: Metabolic Disease and Stroke - Fabry Disease
Treatment & Medication: Metabolic Disease and Stroke - Fabry Disease
Follow-up: Metabolic Disease and Stroke - Fabry Disease
References
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References

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Further Reading

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Keywords

Fabry's disease, angiokeratoma corporis diffusum, glycolipid lipidosis, metabolic disease and stroke, Fabry disease, lysosomal disorder, glycosphingolipids

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Contributor Information and Disclosures

Author

Pitchaiah Mandava, MD, PhD, Assistant Professor, Department of Neurology, Baylor College of Medicine; Consulting Staff, Department of Neurology, Michael E DeBakey Veterans Affairs Medical Center
Pitchaiah Mandava, MD, PhD is a member of the following medical societies: American Academy of Neurology, Sigma Xi, and Stroke Council of the American Heart Association
Disclosure: Nothing to disclose.

Coauthor(s)

Thomas A Kent, MD, Professor, Department of Neurology, Baylor College of Medicine; Neurology Care Line Executive, Michael E DeBakey Veterans Affairs Medical Center
Thomas A Kent, MD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, New York Academy of Sciences, Royal Society of Medicine, Sigma Xi, and Stroke Council of the American Heart Association
Disclosure: Nothing to disclose.

Medical Editor

Jeffrey L Saver, MD, Director, Stroke Center, Professor, Department of Neurology, University of California at Los Angeles Medical Center
Jeffrey L Saver, MD is a member of the following medical societies: American Academy of Neurology, American Heart Association, American Neurological Association, and National Stroke Association
Disclosure: Boehringer-Ingelheim - Secondary Prevention Consulting fee Consulting; Talacris Consulting fee Consulting; ImaRx Consulting fee Consulting

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Howard S Kirshner, MD, Professor of Neurology, Psychiatry and Hearing and Speech Sciences, Vice Chairman, Department of Neurology, Vanderbilt University School of Medicine; Director, Vanderbilt Stroke Center; Program Director, Stroke Service, Vanderbilt Stallworth Rehabilitation Hospital; Consulting Staff, Department of Neurology, Nashville Veterans Affairs Medical Center
Howard S Kirshner, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, American Heart Association, American Medical Association, American Neurological Association, American Society of Neurorehabilitation, National Stroke Association, Phi Beta Kappa, and Tennessee Medical Association
Disclosure: Boehringer Ingelheim Honoraria Speaking and teaching; BMS/Sanofi Honoraria Speaking and teaching; Novartis Honoraria Speaking and teaching

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Helmi L Lutsep, MD, Professor, Department of Neurology, Oregon Health and Science University; Associate Director, Oregon Stroke Center
Helmi L Lutsep, MD is a member of the following medical societies: American Academy of Neurology and American Stroke Association
Disclosure: Co-Axia Consulting fee Review panel membership; Talecris Consulting fee Review panel membership; AGA Medical Consulting fee Review panel membership; Boehringer Ingelheim Honoraria Speaking and teaching; Concentric Medical Consulting fee Review panel membership; Abbott Consulting fee Consulting; Sanofi  Consulting

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