Summary of Chronic Migraine Syndrome in correlation combination of Ehlers-Danlos Syndrome type three a.k.a Hyper-mobility syndrome
By: Ashley Mathieu
As a sufferer of Ehlers-Danlos type 3 hyper-mobility/hyper-laxity syndrome, I can attest that there is very little known about this genetic mutated disorder. To date there is no known genetic marker that can confirm or deny a diagnosis, rather a rigorous set of painful testing. However, recent studies have discovered that there is a small mutation within the genes that can link hypermobility syndrome in the genomics factorization.
“In contrast to all other major EDS subtypes, the molecular basis of EDS-HT is still unknown, except for a few families with identified mutations in TNXB and COL3A1 genes” (Levy HP, 2004). The most know neurological manifestations common in patients with EDS or variants are mainly represented by neuropathies, neuromuscular involvement and, more rarely, CNS anomalies. In general, chronic pain and fatigue are the most frequent neurologic complaints encountered by most patients, especially those suffering from JHS/EDS-HT; these types of genetic disorders strongly impact a person’s quality of life. This possibly represents one of the most debilitating features of the syndrome itself. However, the mechanisms leading to pain are still largely obscure, even if neuropathic features have been described. This can imply that the pain is pathophysiology in JHS/EDS-HT and may be more complex than expected, and that the musculoskeletal involvement cannot explain its entire spectrum. Thus, making it harder to get the proper set of treatment that one needs for what symptom is occurring that most.
Living with a rare disease or disorder can make life rough to begin with, however, add to this equation that doctors are not associated with such a disorder and therefore do not know how to treat you and a patient then slips through the cracks and is mistreated by the medical system. You become a pariah, an outcast of the system that you are now dependent upon as there is no cure or treatment for you other than to treat your symptoms. Now imagine that you are living in the era of an opioid pandemic, so much so that just having an alternative look automatically labels you a drug seeker by some providers. This equated to zero treatment and lack of listening to the patient, again slipping further into the crevasse. What 80% of providers do not know is that this can be a very aggressive disorder and with out help the patient suffers feelings daily to the equivalent of:
· Multiple dislocations
· The feeling that their bones are broken
· Constant pain in every joint
· The loss of simple everyday functions (i.e. walking, cleaning, driving)
· Crippling Migraines from the pain
· Some of us suffer from POTS and MCAD
· There is a high % that we will eventually end up with MS
· Some of us have non-epileptic seizures
· Gait numbness and loss of sensation on half or all our bodies
· The list goes on…
However, getting proper chronic pain management treatment for these issues is impossible as most providers do not think that such things are humanly possible to live with due to lack of knowledge of what a human’s threshold for pain is. Everyone’s is different and when you have no choice but to live with the pain you adapt.
In Francesca Puledda’s publication, she found that no matter the age or onset of the disability of the disease in comparison MO, migraines where the number one complaint of the 33 tested. “Results showed that in JHS/EDS-HT: (1) migraine has an earlier onset (12.6 vs 17 years of age; p = 0.005); (2) the rate of migraine days/month is higher (15 vs 9.3 days/month; p = .01); (3) accompanying symptoms are usually more frequent; (4) HIT-6 and MIDAS scores are higher (p = 0.04 and p = 0.03); (5) efficacy of rescue medication is almost identical, although, total drug consumption is significantly lower (p\0.04). Joint hyper-mobility syndrome and Ehlers–Danlos syndrome, hyper-mobility type patients have a more severe headache syndrome with respect to the MO group, therefore demonstrating that migraine has a very high impact on quality of life in this disease” (Puledda et al., 2015, p.1417).
The study concluded that it was proven to be people with EDS-HT/JDS have migraines higher in comparison to regular healthy person/s that suffer from migraines. Not only that they are more intense and painful, but they are also harder to control with medications. OTC meds do not help even with the additive of caffeine, rather a cocktail of codeine+ paracetamol and caffeine + indomethacin + prochlorperazine were the most common combinations where the most effective treatment for sufferers of migraines with persons with EDS-HT/JDS.
It is my belief that if the United States further funded more institutes into the rarer disorders and diseases that are making a resurgence, there would be less patients falling through the medical gaps in the system. The UK and other European countries are more abreast these situations due to it being more relevant in those countries, however, American as we may be, we have genetic and DNA roots from all over the world and must be treated as thus. All it takes is simply doing more homework. We will never be to old to learn.
References
- Levy HP (2004) Ehlers–Danlos syndrome, hypermobility type.In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens
- K (eds) GeneReviewsTM. University of Washington,Seattle 1993–2013, updated 13 Sept 2012
- Puledda, F., Viganò, A., Celletti, C., Petolicchio, B., Toscano, M., Vicenzini, E., … Di Piero, V. (2015). A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers–Danlos syndrome, hypermobility type. Neurological Sciences, 36(8), 1417–1424. doi:10.1007/s10072–015–2173–6
