Imaging contributes to rare blood disease diagnosis, according to Mayo Clinic

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The Mayo Clinic has clarified that the disease primary central nervous system vasculitis (PCNSV) can best be identified through a combination of diagnostic techniques consisting of angiography, brain biopsy and other laboratory studies.

The Mayo study analyzed 101 adult patients with PCNSV, a rare and little-understood blood vessel disease of the brain and spinal cord that often leads to stroke or death, according to Mayo researchers.

The disease is identified based on a combination of symptoms and the initial results of brain imaging with CT or MRI. Mayo said the study clarifies the usefulness of the evaluation techniques and suggests that a combined diagnostic approach is needed.

While angiography has been the preferred and less invasive method, carrying fewer risks than brain biopsy, no studies had determined its accuracy or established angiographic criteria for the diagnosis.

"Progress in understanding PCNSV has been slow because its occurrence is infrequent and its identification is difficult," explains Robert D. Brown Jr., MD, chair of the Mayo Clinic Department of Neurology, and lead investigator. "Our study begins to answer some essential questions that can clarify diagnosis and hopefully lead to earlier and successful management."

Some the study's main findings are that:
  • Angiography of blood vessels appears to complement brain biopsy in diagnosis.
  • PCNSV is not a single disease, but a variable syndrome that appears to consist of several distinct subsets of different diseases.
  • Though treatment is available and most patients responded to therapy, relapse was common, occurring in 25 percent of patients studied.
  • Death and disability rates among patients were highest in those who had a defined brain dysfunction, such as cognitive impairment, stroke and disease of the large blood vessels on angiography.
  • The annual incidence rate of PCNSV was 2.4 cases per one million people.
Mayo Foundation for Medical Education and Research grants funded the study.