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An enigmatic patient: 20 years odyssey to the right diagnosis





The doctor's odyssey begins about 20 years before her doctor can finally help. As a 25-year-old she appears in a clinic in England in 1994, because she sees lightning strikes in both eyes. At this time, the woman weighs 140 kilos, "morbid overweight," the doctors note. She also smokes.

The eyes look healthy when examined, as doctors at Dimos Merinopoulos, University Hospital Norfolk, report in Oxford Medical Case Reports. Although a spot moves through its field of view, it disappears over time. Because the woman suffers from a possible migraine in addition to vision problems, the doctors refer her to neurology.

About once a month she has a severe headache, says the 25-year-old. In time, she is sensitive to light. Symptoms usually disappear within 24 hours. Apart from that, the woman describes phases where she looks blurred, as well as sensory disturbances in her left lower jaw, left arm and left leg.

Neurologists are investigating the patient but cannot detect anything pathological. For a while, they are considering whether the woman suffers from multiple sclerosis, but the diagnosis does not really fit. They reject them again. Instead, they diagnose a complex form of migraine ̵

1; and release their patient homes.

Four Years After Beginning: Nerves Spinning

Four years later, the woman seeks help in neurology for the second time. On both sides of her body it sometimes sticks to the feeling of losing balance. In addition, there are again vision problems. Again, neurologists start testing again without results. And again four years until complaints run her to the hospital next time. But this time, a year-long, tight sequence of visits to doctors and clinics begins.

Eight years after the beginning: Perhaps rheumatism?

The trigger is again the eyes, the inside is inflamed on both sides. Doctors take the 33-year-old blood off and send it to the lab and reveal a value: antibodies that indicate an autoimmune disease. A clue, at last. The ophthalmologists refer the woman to rheumatology.

Although many people associate rheumatism primarily with joint inflammation. In fact, the term encompasses a large group of diseases associated with chronic inflammation. The immune system often attacks structures in its own body.

Because rheumatism can also affect the brain, doctors have made MR scans. The pictures show pathological areas that penetrate the white matter of the brain. Doctors cannot explain the problems but not. Instead, they regularly monitor the woman's body.


  Womans brain 2002, eight years after discomfort


Oxford University

Womans brain 2002, eight years after discomfort

Eight to ten years after beginning: time of theories

Over the next two years, the symptoms focus mainly on the eyes, causing inflammation, pus and fluid retention. Doctors prescribe prednisolone. The drug suppresses the immune system and is used, among other things, to prevent the body from rejecting the new organ after transplants.

At the same time, doctors discuss what can explain the problems. Two things are likely: Inflamed blood vessels or

  • a breakdown of the myelin sheath that covers many nerves.
  • Doctors do not keep an eye on an exact disease. They would like to examine the woman's nervous water. But they would have to penetrate with an injection in the middle of the spine. This is not possible because of the extreme obesity of the patient.

    Instead, the woman receives two intravenous agents used in severe rheumatic diseases and regulates the immune system. But the symptoms get worse.

    Eleven years after the beginning: Mini-stroke

    Pupils year after the onset of treatment, after sensory breakdown, eye problems and migraine, the symptoms culminate in a ten, a mini-stroke. This is triggered by circulatory disorders in the brain, but in contrast to the proper stroke, the symptoms disappear within 24 hours.


      Womans brain 2005, eleven years after the onset of symptoms


    Oxford University

    Womans brain 2005, eleven years after discomfort

    Thereafter, doctors press their patient into an MRI tube. The changes in the brain have grown, they affect gray matter and the brain stem. Doctors diagnose a "small vascular disease", a disease of the smallest blood vessels. The woman should take beta-blockers, aspirin and statins, but her medical file will be replenished. Several retinal bleeding and inflammation occur inside the eyes.

    16 years after the start: Three suspects

    Another MR scan finally makes doctors to reconsider the diagnoses. The brain looks disturbing, in some cases the tissue is lost, in a woman in the early 40s. Doctors form a team of rheumatologists, neurologists and ophthalmologists, studying the journal, doing research.

    At the end there are three diagnoses left: a hereditary disease In the middle of adulthood, circulatory disorders in the brain, but not confirmed in a gene analysis, result. An extremely rare, inflammatory disease of the smallest blood vessels, which also affects the inner ear. There is everything fresh in the woman. And Behcet's Disease.

    In the rare rheumatic disease, the immune system attacks small blood vessels in the mucous membranes, eyes and skin. Initially, aphthae is common; Small, painful areas of the mouth and genitals. Also typical are inflammation of the eyes, in a serious illness, the sufferers may become blind. Some patients also suffer from the nervous system, others have gastrointestinal involvement. So far, it is unclear how the disease will develop.

    When the doctors question their patient, the woman actually talks about little mouth and genital inflammation that she suffered as a teenager. Since she did not consider the problems important, she had never told doctors about them. With the other complaints, the skin areas give a crucial picture, but the diagnostic criteria are correct. This finally gives the woman's suffering a name. Behcets disease.

    19 years after the first complaints: finally help

    Diagnosis enables doctors to treat their patient specifically in 2013 for the first time. They prescribe their infliximab, a monoclonal antibody that binds to a specific signaling substance in the immune system. She also gets a second cure that suppresses the immune system. This time, the treatment gives the jumped success.

    In the following years, the woman has no further eye inflammation, the stability of the brain stabilizes. She also reports on her latest visit to the doctor that she has started working full time again.


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