Rare Infectious Disease News

Disease Profile

Fibrocartilaginous embolism

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Embolism, fibrocartilaginous

Categories

Heart Diseases

Summary

Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord.[1] FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed “triggering event” such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.[1]

The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.[1]

Symptoms

Signs and symptoms of fibrocartilaginous embolism (FCE) include:[1][2]

  • Sudden neck and/or back pain
  • Progressive muscle weakness
  • Bladder and/or bowel dysfunction
  • Paralysis

In the majority of cases, FCE develops after a minor or even unnoticed "triggering event" such as a minor head or neck injury or heavy lifting. The amount of time between the "trigger" and the onset of symptoms varies from minutes to days, with the average onset of symptoms being 2.4 days after the triggering incident.[1]

Cause

Fibrocartilaginous embolism (FCE) occurs when materials that are usually found within the vertebral disc of the spine migrate into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The exact cause of this migration is unclear, but symptoms often occur after a minor trauma.[1][2]

FCE seems to occur most frequently in people who are in their late teens to their 20s and again in people who are in their 60s, but symptoms can begin anytime during adolescence or adulthood.[1][2] This is thought to be because the vasculature in the spinal cord regresses as individuals enter young adulthood, and the vasculature increases again as people enter their 60s. Therefore, FCE is more likely to occur when there are more blood vessels located in and around the spinal cord. Some causes of FCE are thought to include aging, people who have fibrocartilaginous material (Schmorl nodes) built up in the vertebrae, or people who have spinal cord vasculature that is present throughout adulthood.[1]

Risk factors for FCE include osteoporosis and a previous injury to the spinal cord such as a motor vehicle accident. FCE seems to be more common in women, which may be due to the increased likelihood for women to develop osteoporosis.[2]

Diagnosis

A diagnosis of fibrocartilaginous embolism (FCE) is generally suspected based on the presence of characteristic signs and symptoms. Other conditions that cause similar features can be ruled out using the following tests:[1][2]

Unfortunately, FCE is generally only confirmed with a biopsy, often performed at the time of autopsy.[1] It is thought that FCE may be underdiagnosed and that it may be more common than originally thought.[3]

Treatment

There is, unfortunately, no specific treatment for fibrocartilaginous embolism (FCE). Management is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.[1]

Treatments reported in the literature include surgery, steroid therapy, heparin administration, and/or blood pressure control. However, the benefits of these treatment options are not well-defined.[2][4] 

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Fibrocartilaginous embolism. Click on the link to view a sample search on this topic.

        References

        1. AbdelRazek MA, Mowla A, Farooq S, Silvestri N, Sawyer R, Wolfe G. Fibrocartilaginous embolism: a comprehensive review of an under-studied cause of spinal cord infarction and proposed diagnostic criteria. J Spinal Cord Med. 2016; 39(2):146-154. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5072491/.
        2. Jones DD, Watson RE, Heaton HA. Presentation and Medical Management of Fibrocartilaginous Embolism in the Emergency Department. J Emerg Med. September 2016; 51(3):315-318. https://www.ncbi.nlm.nih.gov/pubmed/27372375.
        3. Han JJ, Massagli TL, and Jaffe KM. Fibrocartilaginous embolism--an uncommon cause of spinal cord infarction: a case report and review of the literature. Archives of Physical Medincine and Rehabilitation. January 2004; 85(1):153-157. https://www.ncbi.nlm.nih.gov/pubmed/14970983.
        4. Mateen FJ, Monrad PA, Hunderfund AN, Robertson CE, and Sorenson EJ. Clinically suspected fibrocartilaginous embolism: clinical characteristics, treatments, and outcomes. European Journal of Neurology. February 2011; 18(2):218-225. https://www.ncbi.nlm.nih.gov/pubmed/20825469.
        5. Alkhachroum AM, Weiss D, Lerner A, and De Georgia MA. Spinal cord infarct caused from suspected fibrocartilaginous embolism. Spinal Cord Series and Cases. May 18, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28546875.

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