First Annual Intracranial Hypotension Symposium

CSF Leak Headache and Hypermobility

Drs. Vernon and Elizabeth Rowe just returned from the first annual Intracranial Hypotension Symposium in Santa Monica, CA, organized by Dr. Wouter Schievink. CSF leak was the major topic discussed, and several experts on the diagnosis and treatment of that disorder from Duke and the Mayo Clinic, as well as headache experts from across the country, were present. One of the major symptoms of Intracranial Hypotension is Headache, and Dr. Stephen Silberstein and Dr. Morris Levin discussed how this headache fits into the new International Classification of Headache Disorders, 3-beta.

One of the most common associations known to occur with CSF leak is the Ehlers-Danlos family of connective tissue disorders, recently reclassified into 13 disorders of known genetic disorders involving particular gene disorders. All these disorders are associated with joint hypermobility syndrome, and Dr. Clair Francomono from Johns Hopkins and the Ehlers-Danlos Society discussed this new genetic classification. (American Journal of Medical Genetics 2017)

Dr. Francomono acknowledged, though, that the most common type of joint hypermobility was that associated with Hypermobility Spectrum Disorder. (ref—American Journal of Medical Genetics—this is the one on our patient handout) For this disorder, there is no known particular genetic defect, but many other symptoms associated with it, and that it is being further detailed at this time. This is the syndrome of headache, joint hypermobility, dysautonomia, milder sleep disordered breathing, GI disturbance, autoimmune disturbances, and endocrinopathy extensively studied by Dr. Rowe over the last three years. (ref posters) Dr. Rowe was asked to help further define this syndrome and he willingly agreed to do so.

Spontaneous Spinal Fluid Leak Headache is sometimes difficult to diagnose. The hallmark symptom, namely, positional headache that worsens when upright and improves when reclining, is not always present. The standard MRI findings of enhancement of the leptomeninges (the covering layers of the brain) and “saggy brain” are not always present either. Sometimes, detailed studies must be done to find the leak at a center familiar with the syndrome. Sometimes, surgery must be done to correct the leak.

The new finding of CSF Hypotension associated with symptoms similar to the behavioral variant of Fronto-Temporal Lobar Degeneration, the second leading cause of dementia behind Alzheimer Disease, was presented by Dr. Schievink. The striking response to plugging the CSF leak suggests CSF leak should be looked for in patients with Fronto-Temporal Lobar Degeneration, as a treatable cause of the syndrome.

But for those many patients with chronic headache, hypermobility spectrum disorder, but no leak, there is treatment available. I tell patients this is just like having a broken arm, a broken leg, and a broken finger. You don’t just cast the arm, and say good luck with the leg and finger. You have to get to the root cause of all the major symptoms and treat each one, just as a doctor has to immobilize all the broken joints when there is more than one that is fractured.

The fatigue in these patients is usually caused by “mild” sleep-disordered breathing, and this therapy must be tailored to the individual patient. The endocrine problems must be treated individually and the autoimmune thyroid disorder Hashimoto’s Thyroiditis must be treated with diet and supplements, and sometimes with thyroid supplementation if necessary. The joint pain must be treated with low impact exercise and those emphasizing stability, not flexibility, and appropriated supplements. The lack of acid production and digestive problems must be treated with betaine-HCl with B12 and B6 supplementation. Other GI symptoms must be treated as they occur, with probiotics and other supplements.

Critical in these patients with Hypermobility Spectrum Disorder is to avoid unnecessary drugs and surgery. Blood pressure regulation (POTS) must be diagnosed and treated with electrolyte supplementation and sometimes with medication. Mast Cell Activation Disorder must be treated with appropriate histamine blockers and the avoidance of stimulants of histamine release by mast cells in the skin.

Sometimes, other autoimmune conditions, like Sjogren’s Syndrome, Lupus, Rheumatoid Arthritis, Crohn’s Disease and Ulcerative Colitis, and others (Multiple Sclerosis) require more aggressive Immune Modulation. These patients with hypermobility spectrum disorder should not be treated with fluoroquinoline antibiotics, because of the effects of this type of antibiotic on connective tissue. And lastly, when a CSF leak is present, they should be sent to one of the few centers in the country specializing in evaluating and treating this disorder.

Dr. Wouter Schievink, Dr. Elizabeth Rowe, and Dr. Vernon Rowe at the First Annual Intracranial Hypotension Symposium held in Santa Monica, CA.

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