Thursday, April 16, 2009

What You Need to Know - Scholarly Articles, Batch #2

"Hypermobility Syndrome" L. Russek (Physical Therapy Journal) 1999
• “HMS has been given relatively little attention in the literature. Most reports are in the rheumatology literature, with virtually none in the orthopedic or physical therapy literatures.”
• HMS patients, however, usually see orthopedists or physical therapists for acute joint pain, and are treated without the underlying problem, aka their HMS, ever being acknowledged.
• “Because HMS lacks a definitive pharmacological or surgical treatment, physicians may have perceived little benefit in its diagnosis.”
• “Individuals may be improperly identified as having hypochondria, as malingering, or as having nonspecific chronic pain, without further investigation into the source of their complaints … Failure to recognize the underlying HMS may lead to unnecessary or inappropriate diagnostic studies, surgical procedures, and patient management.”
• “HMS may be from 1.1 times to 5.5 times more prevalent among females than among men. Hypermobility Syndrome is also more prevalent among Asians than among Africans, ant it is more prevalent in Africans than among Caucasians.”
• “There are neither agreed on criteria nor agreed on scores for the diagnosis of HMS.”
• “Easy bruising and poor wound healing may be seen in patients with HMS as well as patients with EDS or Marfan syndrome.”
• “People with HMS have complaints that have lasted from 15 days to 45 years, and onset of symptoms may occur at any age from 3 to 70 years.”
• HMS patients present “a wide range of traumatic or nontraumatic pain complaints … They typically lack the positive laboratory findings found in rheumatologic disorders and, in the absence of acute trauma, lack the radiological changes, inflammation, swelling, and decreased mobility typical of orthopedic pathology.”
• “People with HMS are more likely (69%) to have anxiety disorders than are comparison groups with rheumatological conditions (22%) … Anxiety may also be due to the perception of joint instability and frequent pain and injury without understandable antecedent.”
• “The high incidence of psychological disorders in people with HMS is similar to that seen with fibromyalgia. Ninety percent of individuals with HMS and fibromyalgia reported sleep disturbances. Because HMS and fibromyalgia appear to be related, the causes of psychological disorders in people with HMS may be similar to those proposed for fibromyalgia: abnormalities in serotonin metabolism, stage IV sleep patterns, and levels of substance P, or perceptual hypervigilance.”
• HMS patients have also reported increased cases of the following; uterine prolapse, rectal prolapse, varicose veins, increased bruising, increased skin elasticity, and decreased skin thickness.
• HMS appears to be a gender-influences dominant trait that causes an abnormality in type I collagen, which is abundant in connective tissues. “In patients with HMS, the ratio of type III collagen to type III + type I collagen is increased. Normally, this ratio is 18%:21%, whereas in patients with HMS, it is 28%:46%.”
• “Nerve tissue also appears to be affected in patients with HMS … Increased mobility and decreased joint position sense could make the joints of people with HMS more vulnerable to damage.”
• “Education is probably the most important treatment that physical therapists can provide to individuals with HMS … education regarding joint protection in HMS may similarly decrease pain, traumatic injury, and subsequent degenerative disease in vulnerable joints. It seems appropriate to advise individuals with HMS in the selection of jobs, sports, or recreational activities that will not exacerbate their condition.”
• “Although exercise will not increase stiffness of the lax ligaments seen in patients with HMS, strengthening and proprioceptive exercises are recommended for musculature surrounding affected joints … Indiscriminant exercise, however, could be harmful … [One should] advise individuals with HMS to use stretching exercises cautiously, distinguishing between stretching muscles and stretching joints.”

"Examination and Treatment of a Patient with HMS" L. Russek (2000)

  • “The signs and symptoms of HMS are common among patients seen in orthopedic physical therapy clinics; however, the HMS may be overlooked while treating individual joints or tissues causing pain … Recognition of HMS underlying common orthopedic problems may facilitate appropriate patient education and management.”
  • “Although the pathophysiology in HMS is not yet understood, the disorder appears to be a systemic collagen abnormality. The ratio of type I to type III collagen is decreased in skin. Abnormaility in collagen ratios is associated with joint hypermobility and laxity of other tissues … HMS also affects cardiac tissue and smooth muscle in the gastrointestinal system and in the female genital system.”
  • What the patient reported
    • “Pain usually developed without known cause, persisted for several weeks to several months, and then subsided.”
    • Easy bruising, frequent skin cuts that healed slowly, problems sleeping, chronic low-level gastrointestinal irritability, chronic fatigue
    • “After several episodes of seeing physicians without receiving diagnoses or recommended treatments, she discontinued seeking medical attention.”
    • “Mother had diffuse chronic joint and muscle pain … [and] had been various diagnoses, including osteoarthritis of the knee, sacroiliac dysfunction, and lumbar disk herniation, for her lower-extremity pain.”
  • “It is important to identify and address the underlying hypermobility rather than treat the individual symptomatic joints. This is because I believed her symptoms were caused by stresses that exceeded the hypermobile tissues’ ability to resist.”
  • “On the one hand, there is no cure for the disorder. The goal for treatment, therefore, is not to return to ‘normal’ (ie, not hypermobile) joint mobility but restoration of relatively pain-free function. That is, treatment does not eliminate the underlying impairment of excessive mobility.”
  • “Patients with HMS can function and their quality of life often can be improved with treatment but they will usually have chronic or recurrent problems.”
  • “The primary emphasis of intervention with this patient was education about the syndrome, about body mechanics and joint protection, and about lifestyle modification.”
  • “Although research on joint protection has not been done on HMS, the joint instability in HMS is similar to that seen in the active phase of rheumatoid arthritis.”
  • “[The patient] reported that activity modification protecting one joint sometimes transferred stress to other joints, which subsequently became symptomatic. Therefore, she was unable to avoid stress to all joints all of the time.”
  • “She reported having had continued difficulty sleeping … [and] was prescribed low doses of notriptyline (a tricyclic antidepressant that acts as a serotonin reuptake inhibitor) … Sleep disturbance, although seldom studied in patients with HMS, may be common: 90% of individuals with both HMS and fibromyalgia reported sleep disturbances … HMS might share some of the physiological abnormalities, such as the decreased cerebrospinal fluid serotonin levels, seen in fibromyalgia.”
  • “Because she knew the limitations of what the medical community could do for her disorder, she decreased use of health care services that she knew would be of no benefit.”

"BJHS: Evaluation, Diagnosis, and Management" M. Simpson (US Army Health Clinic) 2005

  • “Although BHJS has been well recognized in the rheumatology and orthopedic literature, it has not been discussed in the family medicine literature.”
  • “When patients with this syndrome are first seen by a physician, their chief complaint is joint pain, so BJHS can be easily overlooked and not considered in the differential diagnosis.”
  • “In general, women have greater joint laxity than men, and up to 5% of healthy women have symptomatic joint hypermobility compared with 0.6% of men. People of African, Asian, and Middle Eastern descent also have increased joint laxity.”
  • “First-degree relatives with the disorder can be identified in as many as 50% of cases.”
  • Patients with BJHS present with joint pain because “excessive joint laxity leads to wear and tear on joint surfaces and strains or fatigues the soft tissue surrounding these joints … [proprioception] impairment can also lead to excessive joint trauma due to impaired feedback from the joint affected.”
  • “The onset of symptoms can occur at any age … Physical activity or repetitive use of the affected joint often exacerbates the pain. Consequently, pain usually occurs later in the day and morning stiffness is uncommon.”
  • “Patients with BJHS often say that they are ‘double-jointed’ … or have a family history of ‘double-jointedness.’ Other presentations include easy bruising, ligament or tendon rupture … [and] thin skin.”
  • “Diagnoses of BJHS is one of exclusion.”
  • “BJHS is thought to be a mild variation of EDS and most closely resembles EDS type III … researchers have suggested that BJHS lies on a continuum with EDS and may be its mildest form because of their overlapping features.”
  • Effective treatment may include lifestyle modification, joint protection and stabilization exercises, proper body mechanics, and improving proprioception
  • “Hypermobility is a common cause of unexplained joint pain, yet is often misdiagnosed in primary care. According to one source, primary care providers recognized generalized hypermobility in less than 10% of patients with generalized hypermobility who were referred to rheumatologists.”
  • “The potential complications of BJHS underscore the importance of making an early diagnosis and educating the patient … a prompt diagnosis improves pain control and decreases disruptions in these patients’ physical activities, school, work, and quality of life.”

"Genetic basis of joint hypermobility syndromes" F. Malfait, A. Hakim, A. De Paepe, R. Grahame – (2005)

  • “Rheumatologists have long considered that joint hypermobility is inherited … Later it became apparent that connective tissues other than joints, such as skin, bone and eye, participated in the connective tissue fragility seen in JHS.”
  • “It became evident that JHS is itself an under-recognized form of an heritable disorder of connective tissue (HDCT). Patients with JHS can present mild expression of marfanoid habitus, osteoporosis, blue sclerae, skin hyperextensibility, atrophic scarring or easy bruising. Since these features can also be present in the most common form of EDS, the hypermobility type (EDS III), it seems increasingly likely that JHS is, if not identical, indistinguishable from the hypermobility type of EDS.”
  • “To date, the genetic basis of joint hypermobility remains largely unknown … Reports of genetic studies in patients and/or families with EDS, hypermobility type, or with JHS are scarce.”
  • “Classic EDS is characterized by soft and velvety skin, abnormal scar formation and marked joint hypermobility. The joint hypermobility is usually generalized, affecting both large and small joints, and it can range in severity from mild to severe, with major articulate complications such as habitual subluxation and dislocation of the joints.”

"Time to take Hypermobility Seriously" R. Grahame (Brit Soc of Rheum) 2001

  • “From the outset it was perceived more as a curiosity than as an entity that could have significant (let alone serious) import”
  • “There is now abundant evidence … that hypermobility can have a serious impact on people’s lives”
  • “Patients with BJHS have diminished joint proprioceptive acuity and are less responsive than normal to the local anaesthetic effects of lignocaine”
  • “Failure to receive effective intervention not infrequently results in a complicating chronic pain syndrome, fibromyalgia, and depression”
  • There appears to be a total lack of consensus on what criteria to use in diagnosis … a distinct lack or familiarity with recently published literature, in particular on the question of the impact on patient’s lives in terms of the effects of chronic pain and the psychosocial sequelae”
  • “BJHS is not an easy condition to treat. Physiotherapy forms the mainstay of treatment but has to be tailored to the needs of intrinsically vulnerable tissues, otherwise it may aggravate rather than relieve. Analgesics and non-steroidal anti-inflammatory drugs are generally ineffective, and surgery can be counterproductive”

"British Consultant Rheumatologists' Perceptions of the Hypermobility Syndrome: A National Survey" R. Grahame, H. Bird (UCL) 2001

  • Joint hypermobility is a condition considered controversial by rheumatologists
    • 92% believed in HMS as a “distinct clinical entity” but only 39% accepted it as a “distinct pathological entity.”
    • Only 42% would comment on whether HMS and EDS III (hypermobility type) are one in the same, and only 14% believed it was true
    • 50% were skeptical that HMS has “a significant impact” on people’s lives
  • “The only logical explanation for these perceived differences [in opinion] is the failure on the part of many consultants to recognize the presence of hypermobility in their patients.”
  • “Joint hypermobility is easy to recognize if our looks for it, but equally easy to overlook if one does not.”
  • “In terms of the clinical consequences of hypermobility – pain, instability, dislocation, etc. – which may occur in a single lax joint, it matters not how many other joints may or may not be affected. It is clearly illogical to deny a patient a (correct) diagnosis of BJHS” simply because they do not show sufficient hypermobility in the rest of their joints
  • “A striking finding was that 61% [of rheumatologists] required a negative laboratory screen before they would be prepared to summon up significant courage to make a diagnosis of BJHS. This smacks of defensive medicine. It is due to a lack of confidence in one’s clinical findings, a need to make such a diagnosis by exclusion rather than by inclusion, or does it signify a lack of conviction in the very existence of the entity itself?”
  • “The low perception of the impact of the syndrome on individuals’ lives … is challenged by the patients themselves, and is contrary to published findings.”
  • “This survey confirms previous suspicions that the BJHS is a condition that is under-recognized and under-estimated by rheumatologists. There was little sign of awareness of the findings of recent published studies.”

"Living with the Hypermobility Syndrome" S. Gurley-Green (HMSA) 2001

  • A majority of HMS patients feel that their doctors don’t understand the impact HMA has on their lives, nor is the medical community able to provide effective treatment
  • There are 2 types of HMS patients 1) Those who suffer periods of pain (for a few weeks) but can be symptom free for some time 2) Those for whom every day is a struggle against pain
  • Literature suggests symptoms decrease with age, but the stiffening with age does not always mean less pain, and many patients feel their condition deteriorates over time, especially after pregnancy
  • There is currently no effective treatment for the majority of patients, for whom pain is sometimes unbearable
  • HMS makes performing in the workplace and caring for a family extremely difficult; for some the daily tasks of living, like grocery shopping and laundry, are too much
  • Parents are often afraid of passing HMS to their children, and many women are worried that they will not be able to meet the demands of motherhood
  • Many patients are accused of having psychosomatic pain because there is often no clear accident or trauma that coincides with the start of the pain, so doctors have a hard time taking the patient’s complaints seriously
  • The problem of chronic pain is exacerbated because there is often no link between actions and the onset of pain, so it is difficult to lower pain through behavioral modification
  • Many patients see multiple doctors, and suffer from the lack of continuity in treatment and conflicting advice

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