A girl has been reported recently in the obituary pages from complications of a disease. The specific complications are unknown, but donations for Ehlers-Danlos Syndrome (EDS) research have been requested. EDS is a connective tissue disease that causes many symptoms including myofascial pain. The sources have further requested to remain anonymous, but there was a case in late 2011 regarding EDS that warrants review.
A lawsuit against the company of Monster energy drink was pursued, though the company claimed their drinks had less caffeine than a cup of Starbucks coffee, the plaintiff attorneys allege the cardiac arrhythmia in Anais Fournier was suddenly brought on in response to the consumption of the energy drink. The autopsy report concluded that Fournier died of cardiac arrhythmia caused by caffeine toxicity, which complicated a preexisting mitral valve heart condition in association of Ehlers-Danlos syndrome. The Food and Drug Administration records held at the time that 18 deaths and 150 injuries were documented in connection with several brands of energy drinks since 2004.
Doctor Clair A. Francomano of Harvey Institute for Human Genetics speaks on the present research for EDS and hypermobility syndrome.
Collagen abnormalities (and joint laxity) make it hard for ligaments to hold the skeletal system up properly, so the muscles take over, causing muscle spasms, myofascial pain, and neuropathic pain. Degenerative disk disease, which is common in the aged population, can be found frequently in the teenage population with this syndrome. The most common forms of this disorder include the classical type I,II, and the hypermobile type III. Multisystem presentation of hypermobility syndrome consists of the musculoskeletal, dermatological, neurological, cardiovascular, gastrointestinal, and immunological systems. Because EDS has only been regarded as a “flexibility trait,” or just the myofascial element of a connective tissue disease, the dangers of EDS and hypermobiilty syndrome have been overlooked.
“There is a reason sleep deprivation is used as torture,” Dr. Francomano says. People seen with these conditions have very “deranged” sleep cycles and rarely achieve adequate restorative sleep. Dr. Francomano mentions how often reports from sleep study centers do not fully address the questions patients and clinicians have, but rather conclude whether or not there is simply a form of apnea. Sleep architecture is the model of sleep cycles, Dr. Francomano says, and it is this model one must use in determining the quality of sleep a person is obtaining.
Multiple System Signs
- Common musculoskeletal conditions and indicators of EDS, or hypermobility syndrome, include joint hypermobility, joint subluxations and dislocations, tendon and ligament rupture, stress fractures, degenerative disc disease, meniscus tears, chronic pain syndrome and myofascial pain.
- Dermatological signs of the skin include soft, stretchy, translucent, easy bruising, and/or atrophic scarring.
- Neurological signs include headaches, migraines, spondylolisthesis, craniocervical instability, cervical instability, Chiari I malformation, low-lying cerebellar tonsils, increased intracranial pressure, and cerebral spinal fluid (CSF) leaks. Problems with balance were also noted as a common symptom.
- Cardiovascular conditions include mitral valve prolapse, aortic root dilation, aneurysms (for the vascular type of EDS), venous insufficiency, and fibromuscular dysplasia.
- Gastrointestinal pain can be caused by dysmotility, esophageal spasm, gastro-esophageal reflux, constipation, Irritable Bowel Syndrome (IBS), sphincter of Oddi dysfunction, abdominal wall hernias.
- A large number of patients report nausea, numbness, anxiety/severe panic attacks, depression, and insomnia. A small percentage are found to demonstrate seizures, and remarkably, normal Electroencephalography (EEG) readings. The EEG records electrical activity along the scalp and is mainly used to diagnose and manage epilepsy.
- Immunologic symptoms include immunodeficiency, multiple allergies, and the medically fascinating mast cell activation disorder.
- Autonomic dysfunction seen in patients with the hypermobility syndrome include postural orthostatic tachycardia syndrome, where the change from a lying position to an upright position causes an abnormally large increase in heart rate. Sleep disturbances, and difficulty with temperature regulation have also been found.
Initial questioning a doctor may use in determining if further investigation is required often include questions like, “does the patient or have they ever been able to place their hands on the floor by bending forward with knees straight?” “Can the patient now or ever bend their thumb to touch their forearm?” “As a child, did the patient amuse his or her friends with body contortion of any kind?” “As a child or young adult, did the patient’s shoulder or knee cap dislocate during multiple accidents?” “Does the patient consider his or herself to be double-jointed?” Further studies will be necessary to determine why some individuals are able to live pain-free with hypermobility, and why others show signs of connective tissue disease or hypermobility syndrome with elements such as myofascial pain.
Dr. Francomano TCAPP Think Tank 2013 – NEW
By Lindsey Alexander