06-06-2008, 09:58 PM
I have EDS - hypermobility type (see below) which is a heritable connective tissue disorder with collagen as the primary protien affected, and, as a secondary condition, fibromyalgia.
Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, do occur. Clinical variability is substantial. Most individuals who seek medical care are female. Pain and major joint complications are much less common among affected males. There is no apparent parent-of-origin effect with respect to severity.
Skin. The skin is often soft or velvety and may be mildly hyperextensible.
Piezogenic papules (small herniations of subcutaneous fat through the underlying dermis of the heel occurring only with weight bearing) are common but rarely painful.
Musculoskeletal
Joint laxity. Subluxations and dislocations are common and represent the major manifestation of the condition. They may occur spontaneously or with minimal trauma and can be acutely painful. Reduction often occurs spontaneously or can be accomplished by the patient or a friend/family member. For most patients, medical intervention for an acute dislocation is not usually necessary, but pain can last for hours or days after an event. Instability and excessive joint motion is evident on routine activity, even in the absence of overt subluxation. All sites can be involved, including the extremities, vertebral column, costo-vertebral and costo-sternal joints, clavicular articulations, and temporomandibular joints. Younger individuals and females tend to have more substantial laxity than older individuals and males.
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Osteoarthritis. Degenerative joint disease occurs at a younger age than in the general population, possibly because of chronic joint instability resulting in increased mechanical stress.
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Osteoporosis. Bone mineral density in individuals with EDS, hypermobility and classic types may be reduced by up to 0.9 standard deviation compared to healthy controls, even in young adulthood [Dolan et al 1998].
Pain. Chronic pain, distinct from that associated with acute dislocations or advanced osteoarthritis, is a serious complication of the condition and can be both physically and psychosocially disabling [Sacheti et al 1997]. It is variable in age of onset (as early as adolescence or as late as the fifth or sixth decade), number of sites, duration, quality, severity, and response to therapy. The severity is typically greater than expected based on physical and radiologic examination, and fatigue and sleep disturbance are frequently associated. Affected individuals are often diagnosed with chronic fatigue syndrome, fibromyalgia, depression, hypochondriasis, and/or malingering prior to recognition of joint laxity and establishment of the correct underlying diagnosis. At least two recognizable pain syndromes are likely:
*
Pain or myofascial pain, localized around or between joints, often described as aching, throbbing, or stiff in quality, may be attributable to myofascial spasm, and palpable spasm with tender points (consistent with fibromyalgia) is often demonstrable, especially in the paravertebral musculature. Myofascial release often provides temporary relief.
*
Neuropathic pain, variably described as electrical, burning, shooting, numb, tingling, or hot or cold discomfort, may occur in a radicular or peripheral nerve distribution or may appear to localize to an area surrounding one or more joints. Nerve conduction studies are usually non-diagnostic. Skin biopsy may reveal reduction or absence of small nerve fibers.
One hypothesis is that painful myofascial spasm occurs in response to chronic joint instability, with neuropathic pain resulting from direct nerve impingement (e.g., by subluxed vertebrae, herniated discs, vertebral osteoarthritis, or peripheral joint subluxations), and/or from mild-to-moderate nerve compression within spasmed connective tissues.
Headaches, especially migraine, are common, caused at least in part by cervical muscle tension and temporomandibular dysfunction.
Hematologic. Easy bruising is quite common, frequently without obvious cause. Mildly prolonged bleeding, epistaxis, and menometrorrhagia may also occur. Clinically, this mimics von Willebrand disease, but von Willebrand factor, platelet number and function, and coagulation factor studies are almost always normal. It is, however, possible for von Willebrand disease, idiophathic thrombocytopenia purpura, or other hemorrhagic conditions to be present independent of EDS.
Gastrointestinal. Functional bowel disorders are common and underrecognized, affecting up to 50% of individuals with EDS, hypermobility and classic types [Levy et al 1999].
Gastroesophageal reflux and gastritis may be symptomatic despite maximal doses of proton pump inhibitors with additional H2-blockers and acid-neutralizing medications.
Early satiety and delayed gastric emptying may occur and may be exacerbated by opioid (and other) medications.
Irritable bowel syndrome may manifest with diarrhea and/or constipation, associated with abdominal cramping and rectal mucus.
Cardiovascular
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Autonomic dysfunction. Approximately one-third to one-half of individuals with EDS, hypermobility (and classic) type report atypical chest pain, palpitations at rest or on exertion, and/or orthostatic intolerance. Holter monitoring usually shows normal sinus rhythm, but sometimes reveals premature atrial complexes or paroxysmal supraventricular tachycardia. Tilt table testing may reveal neurally mediated hypotension (NMH) and/or postural orthostatic tachycardia syndrome (POTS) [Rowe et al 1999].
*
Aortic root dilatation, usually of a mild degree, occurs in one-quarter to one-third of individuals with EDS, classic and hypermobility types [Wenstrup et al 2002]. The severity appears to be much less than occurs in Marfan syndrome, and there is no increased risk of aortic dissection in the absence of significant dilatation. The long-term stability or progression and ultimate prognosis are not yet known [Leier et al 1980, McDonnell et al 2006].
*
Mitral valve prolapse (MVP) was previously considered a manifestation of all types of EDS, but this has not been confirmed in rigorous evaluations using modern diagnostic criteria for MVP [Dolan et al 1997]. It is possible that mild MVP not meeting diagnostic criteria (and therefore not requiring special monitoring or treatment) may also explain some of the atypical chest pain and palpitations.
Oral/dental. High, narrow palate and dental crowding are nonspecific features of most heritable disorders of connective tissue.
Periodontal disease (friability, gingivitis, gum recession) occurs in some individuals with EDS [Letourneau et al 2001, De Coster et al 2005] and is no longer considered a unique subtype of EDS [Beighton et al 1998]. The frequency of periodontal manifestations in the hypermobility type is undetermined. De Felice et al (2004) reported an abnormally complex oral microvascular network in 12 individuals with classic or hypermobility type EDS; potential correlation of this with periodontal disease has not been reported.
Temporomandibular dysfunction ("TMJ syndrome") is relatively common [De Coster et al 2005], and can be thought of as a specific example of joint degeneration and osteoarthritis.
Obstetric/gynecologic. Pregnancy may be complicated by premature rupture of membranes or rapid labor and delivery (less than four hours), but this is less likely than in the classic type. Joint laxity and pain typically increase throughout gestation, especially in the third trimester, as normally occurs during pregnancy in unaffected women. No other complications are associated with pregnancy.
Pelvic prolapse and dyspareunia occur at increased frequency in at least the classic and hypermobility types of EDS [Mcintosh et al 1995, Carley & Schaffer 2000].
Psychiatric. Depression is a common complication among all individuals with chronic pain, including those with EDS. No data are available on mood or personality disorders independent of pain among individuals with EDS.
Prevention of Primary Manifestations
Improved joint stability may be achieved by low-resistance exercise to increase muscle tone (subconscious resting muscle contraction, as opposed to voluntarily recruited muscle strength). Examples include walking, bicycling, low-impact aerobics, swimming or water exercise, and simple range-of-motion exercise without added resistance. Progress should be made by increasing repetitions, frequency, or duration, not resistance. It may take months or years for significant progress to be recognized. (That explains why I thought I totally sucked at physical therapy!)
source
Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, do occur. Clinical variability is substantial. Most individuals who seek medical care are female. Pain and major joint complications are much less common among affected males. There is no apparent parent-of-origin effect with respect to severity.
Skin. The skin is often soft or velvety and may be mildly hyperextensible.
Piezogenic papules (small herniations of subcutaneous fat through the underlying dermis of the heel occurring only with weight bearing) are common but rarely painful.
Musculoskeletal
Joint laxity. Subluxations and dislocations are common and represent the major manifestation of the condition. They may occur spontaneously or with minimal trauma and can be acutely painful. Reduction often occurs spontaneously or can be accomplished by the patient or a friend/family member. For most patients, medical intervention for an acute dislocation is not usually necessary, but pain can last for hours or days after an event. Instability and excessive joint motion is evident on routine activity, even in the absence of overt subluxation. All sites can be involved, including the extremities, vertebral column, costo-vertebral and costo-sternal joints, clavicular articulations, and temporomandibular joints. Younger individuals and females tend to have more substantial laxity than older individuals and males.
*
Osteoarthritis. Degenerative joint disease occurs at a younger age than in the general population, possibly because of chronic joint instability resulting in increased mechanical stress.
*
Osteoporosis. Bone mineral density in individuals with EDS, hypermobility and classic types may be reduced by up to 0.9 standard deviation compared to healthy controls, even in young adulthood [Dolan et al 1998].
Pain. Chronic pain, distinct from that associated with acute dislocations or advanced osteoarthritis, is a serious complication of the condition and can be both physically and psychosocially disabling [Sacheti et al 1997]. It is variable in age of onset (as early as adolescence or as late as the fifth or sixth decade), number of sites, duration, quality, severity, and response to therapy. The severity is typically greater than expected based on physical and radiologic examination, and fatigue and sleep disturbance are frequently associated. Affected individuals are often diagnosed with chronic fatigue syndrome, fibromyalgia, depression, hypochondriasis, and/or malingering prior to recognition of joint laxity and establishment of the correct underlying diagnosis. At least two recognizable pain syndromes are likely:
*
Pain or myofascial pain, localized around or between joints, often described as aching, throbbing, or stiff in quality, may be attributable to myofascial spasm, and palpable spasm with tender points (consistent with fibromyalgia) is often demonstrable, especially in the paravertebral musculature. Myofascial release often provides temporary relief.
*
Neuropathic pain, variably described as electrical, burning, shooting, numb, tingling, or hot or cold discomfort, may occur in a radicular or peripheral nerve distribution or may appear to localize to an area surrounding one or more joints. Nerve conduction studies are usually non-diagnostic. Skin biopsy may reveal reduction or absence of small nerve fibers.
One hypothesis is that painful myofascial spasm occurs in response to chronic joint instability, with neuropathic pain resulting from direct nerve impingement (e.g., by subluxed vertebrae, herniated discs, vertebral osteoarthritis, or peripheral joint subluxations), and/or from mild-to-moderate nerve compression within spasmed connective tissues.
Headaches, especially migraine, are common, caused at least in part by cervical muscle tension and temporomandibular dysfunction.
Hematologic. Easy bruising is quite common, frequently without obvious cause. Mildly prolonged bleeding, epistaxis, and menometrorrhagia may also occur. Clinically, this mimics von Willebrand disease, but von Willebrand factor, platelet number and function, and coagulation factor studies are almost always normal. It is, however, possible for von Willebrand disease, idiophathic thrombocytopenia purpura, or other hemorrhagic conditions to be present independent of EDS.
Gastrointestinal. Functional bowel disorders are common and underrecognized, affecting up to 50% of individuals with EDS, hypermobility and classic types [Levy et al 1999].
Gastroesophageal reflux and gastritis may be symptomatic despite maximal doses of proton pump inhibitors with additional H2-blockers and acid-neutralizing medications.
Early satiety and delayed gastric emptying may occur and may be exacerbated by opioid (and other) medications.
Irritable bowel syndrome may manifest with diarrhea and/or constipation, associated with abdominal cramping and rectal mucus.
Cardiovascular
*
Autonomic dysfunction. Approximately one-third to one-half of individuals with EDS, hypermobility (and classic) type report atypical chest pain, palpitations at rest or on exertion, and/or orthostatic intolerance. Holter monitoring usually shows normal sinus rhythm, but sometimes reveals premature atrial complexes or paroxysmal supraventricular tachycardia. Tilt table testing may reveal neurally mediated hypotension (NMH) and/or postural orthostatic tachycardia syndrome (POTS) [Rowe et al 1999].
*
Aortic root dilatation, usually of a mild degree, occurs in one-quarter to one-third of individuals with EDS, classic and hypermobility types [Wenstrup et al 2002]. The severity appears to be much less than occurs in Marfan syndrome, and there is no increased risk of aortic dissection in the absence of significant dilatation. The long-term stability or progression and ultimate prognosis are not yet known [Leier et al 1980, McDonnell et al 2006].
*
Mitral valve prolapse (MVP) was previously considered a manifestation of all types of EDS, but this has not been confirmed in rigorous evaluations using modern diagnostic criteria for MVP [Dolan et al 1997]. It is possible that mild MVP not meeting diagnostic criteria (and therefore not requiring special monitoring or treatment) may also explain some of the atypical chest pain and palpitations.
Oral/dental. High, narrow palate and dental crowding are nonspecific features of most heritable disorders of connective tissue.
Periodontal disease (friability, gingivitis, gum recession) occurs in some individuals with EDS [Letourneau et al 2001, De Coster et al 2005] and is no longer considered a unique subtype of EDS [Beighton et al 1998]. The frequency of periodontal manifestations in the hypermobility type is undetermined. De Felice et al (2004) reported an abnormally complex oral microvascular network in 12 individuals with classic or hypermobility type EDS; potential correlation of this with periodontal disease has not been reported.
Temporomandibular dysfunction ("TMJ syndrome") is relatively common [De Coster et al 2005], and can be thought of as a specific example of joint degeneration and osteoarthritis.
Obstetric/gynecologic. Pregnancy may be complicated by premature rupture of membranes or rapid labor and delivery (less than four hours), but this is less likely than in the classic type. Joint laxity and pain typically increase throughout gestation, especially in the third trimester, as normally occurs during pregnancy in unaffected women. No other complications are associated with pregnancy.
Pelvic prolapse and dyspareunia occur at increased frequency in at least the classic and hypermobility types of EDS [Mcintosh et al 1995, Carley & Schaffer 2000].
Psychiatric. Depression is a common complication among all individuals with chronic pain, including those with EDS. No data are available on mood or personality disorders independent of pain among individuals with EDS.
Prevention of Primary Manifestations
Improved joint stability may be achieved by low-resistance exercise to increase muscle tone (subconscious resting muscle contraction, as opposed to voluntarily recruited muscle strength). Examples include walking, bicycling, low-impact aerobics, swimming or water exercise, and simple range-of-motion exercise without added resistance. Progress should be made by increasing repetitions, frequency, or duration, not resistance. It may take months or years for significant progress to be recognized. (That explains why I thought I totally sucked at physical therapy!)
source