Question 1: Diagnosis
The diagnosis of Multiple Sclerosisis made clinically on the basis of two episodes of neurological signs or symptoms that involvetwo or more areas of the central nervous system over time. The current McDonald criteria also incorporate magnetic resonance imagingdemonstrating multiple areas of involvement in the brain and/or spinal cord. Over time, one would expect to see new lesions appear. The appearance of these lesions is fairly characteristic. They enhance brightly with contrast. Other diagnostic clues include abnormalities in the spinal fluid showing evidence of breakdown of myelin, and disturbances in electrophysiological studies (evoked responses) of the nervous system.
The medical records provided are consistent with a diagnosis of multiple sclerosis of the remitting-relapsing variety.
Over the past decade, a number of new drugs have introduced to try and reduce the number and severity of relapses and the number of new lesions appearing on magnetic resonanceimaging. It is hoped, but not yet proven that these drugs can reduce the progression of the disease. The timing of these drugs and the duration of treatment remains under study.
Current treatment for multiple sclerosis includes:
Beta interferons. Interferon beta-1b (Betaseron) and interferon beta-1a (Avonex, Rebif) are genetically engineered copies of proteins that occur naturally. They are believed to help fight viral infection and regulate the immune system.
Betaseron is injected subcutaneously every other day. Rebif is injected subcutaneously three times a week. Avonex is injected intramuscularly once a week.
These medications help reduce, but will not stop the flare-ups of multiple sclerosis. The long-term benefits remain to be determined. The drugs are not combined.
The Beta interferons do not reverse damage. Some people develop antibodies to beta interferons. The antibodies make the interferons less effective, or even ineffective. Some of the side effects make the drugs poorly tolerated by some people.
Some doctors prefer to observe patients at high risk with follow-up examinations and with MRI scans to document progression before recommending long-term therapies with beta interferon.
Glatiramer (Copaxone). This medication is an alternative to beta interferon for patients with relapsing remitting MS. This drug is injected subcutaneously once a daily. Side effects may include flushing and shortness of breath.
Natalizumab (Tysabri). This drug is administered intravenously once a month. It works by blocking the attachment of immune cells to brain blood vessels, and reduces the inflammatory activity in the brain. There have been several reports of a rare but fatal disorder called progressive multifocal leukoencephalopathy. For this reason, it is recommended only for people whose condition hasn't responded to other forms of MS therapy. In the United States the use of the drug has been tightly regulated.
Mitoxantrone (Novantrone) is used for treatment of aggressive forms of relapsing remitting MS, as well as certain forms of progressive MS. It is infused intravenously, typically every three months.
It is typically not used for longer than two to three years, and typically reserved for patients with severe or rapidly advancing disease who don't respond to other treatments. Close monitoring is critical because of cardiac side effects.
Cyclophosphamide (Cytoxan) has also been prescribed for severe, rapidly progressing MS. This use is not FDA approved in the United States, however.
Medications for progressive MS
The symptoms of progressive MS may be improved by:
Corticosteroids. oral or intravenous corticosteroids reduce inflammation in nerve tissue and shorten the duration of flare-ups. The benefit of long-term corticosteroid therapy in multiple sclerosis isn't established.
Muscle relaxants. Baclofen (Lioresal) and tizanidine (Zanaflex) may help reduce spasticity.
Plasma exchange (plasmapheresis). Plasma exchange may help restore neurological function in sudden severe attacks of MS that does not respond to high doses of steroid treatment. Plasmapharesis involves removing plasma from the blood stream and reinfusing the blood cells with other fluid. Replacing the plasma may dilute the activity of the destructive factors in the immune system, including antibodies that attack myelin. Plasma exchange has no proven benefit beyond three months from the onset of the neurological symptoms.
Questions 2 and 3
I do not feel qualified to offer the names of experts or centers in Italy, other than to say that the state of neurology in the major university hospital is very advanced, and the treatment of multiple sclerosis stands at a very high level, consistent with the protocols and standards practiced in Europe and in the United States.
The same can be said in the United States. In general there are multiple sclerosis clinics in which physicians focus their interest on the disease. The outstanding centers include:
- In Montreal, Canada: The Montreal Neurological Institute
- In Boston, Massachusetts:
o The Beth Israel Hospital
o The Massachusetts General Hospital
o The Brigham and Women’s Hospital
- In New Haven, Connecticut: The Yale New Haven Hospital
- In New York City:
o The Mount Sinai Hospital
o Columbia Presbyterian Hospital
o New York Hospital
o New York University Medical Center
- In Baltimore, Maryland: The Johns Hopkins Hospital
- In Rochester, Minnesota: The May Clinic
- In Palo Alto, California: Stanford Medical Center.