Neck Pain and Ehlers-Danlos Syndrome

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neck pain ehlers danlos syndromeEhlers-Danlos Syndrome may be the cause of neck pain in some patients and at least three of the most common types of the disorder can contribute to chronic pain in the neck. EDS is a group of ten or so connected disorders affecting the connective tissues in the body and is passed down through families through a defect in the genes controlling the metabolism of collagen. As such, ligaments, blood vessels, joints, internal organs, skin, and the inter-cellular matrix are affected by the defect leading to a variety of symptoms. In 1997 a new classification system was introduced delineating six types of Ehlers-Danlos syndrome although it is well understood that individual experiences of the disease are extremely variable.

Symptoms of Ehlers-Danlos Syndrome

Most patients suffering from neck pain due to Ehlers-Danlos syndrome will also be experiencing pain in other joints of the body and a degree of hyper-flexibility that can cause them to become injured even performing fairly routine activities. Most patients are diagnosed on the basis of symptoms but some undergo genetic testing and this may also be offered to other family members in order to determine any risk which could be reduced in siblings or children. Most patients have a parent with the condition. It is thought that EDS is under-diagnosed due to the overlap of symptoms with other illnesses, general aches and pains, and the complexity of the effects of the connective tissue disorder. Many patients will have a protracted route resulting in diagnosis of Ehlers-Danlos syndrome and in some cases it may be helpful for them to receive counselling and other psychological interventions. These can help address the stress that often results from a patient’s journey towards diagnosis and counselling can also provide validation for a patient’s experience of symptoms that may have been written off as malingering or hypochondria in the past.

Chronic Pain and Joint Degeneration

Chronic pain is a common symptom of Ehlers-Danlos syndrome and this often begins early in life. The severity of the pain and the effect of this on a patients’ quality of life are variable with some requiring significant intervention to prevent serious joint damage occurring. Hypermobility is common in patients, with vascular symptoms of the disease less commonly observed. The chronic pain which usually characterizes the disease is often reported as worsening during a patient’s lifetime, perhaps due to progressive wear and tear and damage to the joints. Neck pain may then result from hypermobility-induced wear and tear, pinched nerves in the neck, inflammation in damaged joints, and also from reduced circulation to the neck and head due to vascular manifestations of Ehlers-Danlos syndrome.

Effects of Ehlers-Danlos Syndrome


The most common sites of pain in the syndrome are the shoulders, knees, ankles, feet, and toes but many patients report eight or more painful locations in the body, many of which develop after the age of eighteen, despite there being memories of pain in childhood. Disruption to sleep and physical activity are two of the most frequently reported effects of EDS, both of which have wide-ranging ramifications for general health and well-being. The connective tissue disorder also affects patients’ ability to study and to work, and almost half of all patients report that Ehlers-Danlos syndrome adversely affects their sex life.

Hyperflexibility, Neck Pain, and EDS

Hypermobility type 3 Ehlers-Danlos syndrome is usually considered the least severe of the classifications of EDS although it is still likely to cause significant pain and disruption in a patient’s life. Patients often have skin symptoms of the disease, with the skin feeling particularly soft and velvety, as well as being hyperextensible in some cases. Dislocations and subluxations are common, occurring with even minor trauma or no apparent cause in some cases but frequently resulting in severe pain. Where subluxations occur in the spine the resulting pinched nerves can cause neck pain, back pain, weakness and numbness in the peripheral limbs, and abnormal sensation such as tingling or a burning feeling in the skin (referred to as radiculopathy). Joint degeneration is common, as is chronic pain not connected to specific dislocations or osteoarthritis. Patients often bruise very easily when they have Ehlers-Danlos syndrome and many have difficulty maintaining bone density, leading to the increased risk of osteoporotic fractures in later life.

Neck Pain Relief in Ehlers-Danlos Syndrome

subluxation neck ehlers danlos syndromeTreating EDS involves physical therapy appropriate for the degree of disability and symptom severity in each patient. Where mobility is affected, patients may use braces, wheelchairs, and scooters but are usually not advised to rely on crutches, canes, or walkers as these can put extra strain on the upper body. Mattress quality is often important for patients with EDS in order to improve sleep, with relaxation techniques also beneficial for some. Pain medication is often prescribed but patients may have a difficult time finding a suitable analgesic with manageable side-effects. A combination of therapies is usually beneficial in order to reduce acute suffering whilst attempting to reduce future injury or degeneration of joints. Low-resistance exercise can be helpful in maintaining the strength and stability of joints and ergonomics are very helpful in reducing strain whilst at work or study. DEXA scans to assess bone density may be required in order to catch early signs of osteoporosis and provide appropriate treatment.

Spinal Stenosis, Pinched Nerves, and Neck Pain

Neck pain from Ehlers-Danlos syndrome can be a result of pinched nerves in the neck, muscle strains or sprains from accidental hyperextension, ischaemia following damage to the vasculature in the neck and cervical spine, and even fracture, subluxation, and spinal stenosis resulting from the condition. One case report of a patient detailed a 27yr-old man presenting at an emergency department with the worst headache of his life and neck pain lasting a week. He had a stabbing, intermittent pain localized to the left occiput, accompanied by a constant, dull left-sided headache and neck pain brought on when working at a computer. Despite acetaminophen use, along with applying pressure to the area the pain continued and the patient sought medical attention whereupon he was found to have suffered an aneurysm in his right internal carotid artery. The left distral vertebral artery was also abnormal as were a number of other blood vessels and the patient was diagnosed with vascular Ehlers-Danlos syndrome, a rare type of the condition that often leads to a shortened lifespan due to degeneration of the arteries and the possibility of arterial dissection and other complications.

Fibromyalgia, CFS, EDS and Neck Pain

Patients with EDS are often diagnosed with fibromyalgia, chronic fatigue syndrome, depression, hypochondriasis, and other condition before the genetic disorder is identified. Myofascial spasm and muscular pain is also seen in many patients, with aching joints that throb or are stiff and tender. This is particularly common in the spinal muscles and can contribute to back and neck pain. Hypermobility in the cervical spine may produce similar symptoms to those of whiplash associated disorder as the spinals structures are repeatedly exposed to excessive movements which wear down the cartilage, intervertebral discs, and bones in the spine. Neck pain from a stretched capsule and chronic stress may also occur and supportive devices used by patients may further weaken the supporting spinal muscles making it important to discuss such intervention with a specialist experienced in treating patients with Ehlers-Danlos syndrome.

Neuropathy and Neck Pain in Ehlers-Danlos Syndrome

neck pain headache ehlers danlos syndrome vertebral arteries

Multiple sites of stenosis in left and right vertebral arteries in a 27yr-old with 27-year-old man with Ehlers-Danlos syndrome, type IV (vascular type EDS).

Neck pain with neuropathy is also possible in EDS, with radicular pain such as pins and needles in the arms and hands, numbness, burning sensations, and feelings of heat or cold also experienced by some. Nerve conduction studies are not commonly used during diagnosis and the nerve fibers may be normal in patients with the pain and altered sensation originating instead from spinal nerves that are pinched by subluxed vertebrae, disc herniation, osteoarthritis and osteophyte development, or even fracture and peripheral joint subluxations. Neck pain and headache are not uncommon and are thought to be caused by tension in the neck muscles, reduced circulation to the head and neck through vascular damage and blood vessel compression, and possible dysfunction on the temporomandibular joint (the jaw).

Managing EDS

Ehlers-Danlos syndrome may not be an easily recognizable and common disorder (it is estimated to affect somewhere between 1 in 5,000 and 1 in 20,000 people), but it could provide an explanation for spontaneous neck pain, particularly in children and adolescents, and especially in cases where the condition runs in the family. Where neck pain is caused by Ehlers-Danlos syndrome, patients are likely to require physical therapy, pain medications, and assistive devices as well as regular check-ups to monitor the progression of the condition. Pain medications are thought to be underprescribed in cases of Ehlers-Danlos syndrome and physicians are advised to tailor medication to the subjective experience of patients rather than simply taking objective findings into account.

Neck Pain Relief for Patients with Ehlers-Danlos Syndrome

Unfortunately, acetaminophen is frequently prescribed for patients with EDS despite recent findings showing that accidental repeat overdose is more likely to be fatal than a single intentional overdose. NSAIDs are also commonly prescribed, as are COX-2 inhibitors, Tramadol, topical lidocaine, SNRIs muscle relaxants and tricyclic antidepressants for neuropathic pain. It is easy to see how a patient can end up on a cocktail of medications which result in the need for further medications to ease their side-effects. Patients may be given the best chance of managing their symptoms effectively when their condition and all direct and indirect effects are taken into consideration. Treatment of neck pain from Ehlers-Danlos syndrome needs careful management in order to reduce the risks of nerve damage and spinal cord compression.

Reference

Sara R. Alcorn, Marie-Adele Sorel, Stephan Auerbach, M.D., and Kitt Shaffer, M.D., Ph.D.
Citation: Alcorn SR, Sorel M-A, Auerbach S, Shaffer K. Ehlers-Danlos syndrome presenting as severe headache in a young adult. Radiology Case Reports. [Online] 2008;3:172.

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