Topic 15.2. Other presentations to the emergency department with Friedreich ataxia
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
Topic Contents
15.2 Other presentations to the emergency department with Friedreich ataxia
15.2.1 Management of musculoskeletal presentations
15.2.2 Management of urinary tract infection
15.2.3 Management of a diabetes emergency
Disclaimer / Intended Use / Funding
Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.
The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.
Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.
These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.
Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.
15.2 Other presentations to the emergency department with Friedreich ataxia
Yenni Lie, Anne Fournier, Noushin Chini Foroush, Roger E. Peverill and Hamed Akhlaghi
15.2.1 Management of musculoskeletal presentations
Types of musculoskeletal presentations
Individuals with FRDA may be at a greater risk of falls due to impairment of mobility in the context of progressive ataxia and dorsal column degeneration, neuropathy (5, 6), orthopedic deformities (7), spasticity (7-9) and muscle weakness (5, 10). Other FRDA-related complications such as reduced vision, cardiac arrhythmia with or without hypotension, uncontrolled or newly presenting diabetes, and urinary or bowel urgency or frequency may also contribute to a higher risk of falls. Individuals with FRDA may have reduced bone mineral density; hence they may be at a greater risk of osteoporotic fractures as a result of falls (11). Musculoskeletal injuries resulting from falls may also exacerbate underlying spasticity or present with painful muscle spasms.
Individuals with FRDA may also present to the emergency department with acute or chronic exacerbation of back pain. Some potential contributing factors to chronic back pain in individuals with FRDA include progressive scoliosis, degenerative spinal disease with or without spinal nerve compression, muscle sprains or spasms, and osteoporotic vertebral fractures. Some individuals with FRDA may have had spinal fusion surgery to correct scoliosis (12). In a person with FRDA presenting with acute or acute on chronic back pain, neurological assessment for any signs of compressive radiculopathy or cord compression may be difficult due to pre-existing neurological deficits. There are no published studies of evaluation of back pain in individuals with FRDA; however, more advanced imaging such as CT or MRI scan may be necessary to assess for any spinal cord or nerve root compromise, or for complications related to any prior scoliosis surgery, such as rod infection or migration.
Implications for mobility
Acute musculoskeletal injury in FRDA may have negative effects on the individual’s mobility and function, and other issues related to de-conditioning may occur as a result of a reduction in mobility. Although there is no published evidence in FRDA, in general, prolonged immobilization may lead to further loss of muscle strength and endurance, contractures and soft tissue changes, disuse osteoporosis and degenerative joint disease, as well as cardiovascular complications such as decreased cardiac reserve, orthostatic hypotension and venous thromboembolism (13). These may negatively impact on functional independence and may increase the rate of decline towards wheelchair dependency. Therefore, minimizing the duration of immobilization, whenever possible, can be significant in individuals with FRDA. However, risks associated with unprotected or premature weight-bearing would need to be considered, such as wound infection, pain and increased falls.
Some factors that may allow earlier return to mobilization following an acute musculoskeletal injury include adequate management of pain and spasticity, treatment of any orthopedic injury and rehabilitation. These management strategies may require a coordinated multi-disciplinary approach in an inpatient rather than outpatient or community setting. There is a paucity of published studies evaluating the management of pain and spasticity in individuals with FRDA. In general, medications should be used in combination with patient education and physical therapy. The evidence-base for all pharmacological agents is weak. Oral or intrathecal baclofen may work best for generalized spasticity, whilst intramuscular botulinum toxin or phenol injections may help with focal spasticity. The use of these agents may be complicated by paradoxical worsening of mobility or functioning by reducing spasticity and unmasking weakness (14). Other agents such as benzodiazepines and antiepileptic drugs may cause ataxia as an adverse reaction (15); hence they should be used with extra caution in individuals with pre-existing ataxia.
15.2.2 Management of urinary tract infection
Background
Urinary disturbance appears to be a common problem in individuals with FRDA (16), including bladder overactivity and, less commonly, voiding dysfunction and incomplete bladder emptying. Clinical experience indicates that individuals with FRDA may experience urinary retention that requires assessment and intervention. The identification of urinary retention in individuals with FRDA may also be an indicator of disease progression. Bladder dysfunction, intermittent catheterization or indwelling bladder catheter for persistently elevated post void residual volumes, diabetes, and functional disability can increase the risk of recurrent urinary tract infections (UTIs) in individuals with FRDA.
Assessment
The clinical spectrum of UTIs ranges from asymptomatic bacteriuria, to symptomatic and recurrent UTIs, to sepsis associated with UTI. Recent evidence helps to differentiate asymptomatic bacteriuria from symptomatic UTI. Asymptomatic bacteriuria is common in patients with bladder dysfunction and in patients with indwelling bladder catheters; it is not associated with morbidity or mortality and treatment is discouraged as it increases the likelihood of the emergence of resistant bacteria. The diagnosis of symptomatic UTI is made when a patient has both clinical features and laboratory evidence of a urinary infection (17). Given that some patients with FRDA have clinical features but no UTI, the emphasis should be on laboratory evidence of an infection such as elevated WCC, raised CRP, confirmatory urine test and positive urine culture. However, this may also be masked in patients on prophylactic antibiotics. Patients presenting with any two of the following meet the clinical diagnostic criteria for symptomatic UTI: fever, worsened urinary frequency or urgency, acute dysuria, suprapubic tenderness, or costovertebral angle pain or tenderness. However, dysuria may not be present in an individual with neurogenic bladder, and UTI may present with nonspecific symptoms such as urinary incontinence, increased spasticity, lethargy and systemic inflammatory response (18). A positive urine culture (³105 CFU/mL) with no more than two uropathogens and pyuria confirms the diagnosis of UTI (17). The urine specimen should be collected by catheterization if midstream urine is not able to be collected due to voiding issues. A spontaneous void urine specimen is not recommended, given the higher number of false positive urine culture results.
Treatment
Once UTI is diagnosed, there is a broad consensus that it should be treated with narrow spectrum antibiotics, if possible, for the shortest duration that is clinically safe (19). UTI in individuals with neurogenic bladder is considered as a complicated UTI, and a 7-10 day treatment for UTI without fever, and 14 days in patients with fever are recommended (19). In addition, if the infection involves parenchymal organs (e.g., pyelonephritis, prostatitis), the treatment duration should be extended and inpatient intravenous management may be required (20). In patients with a long-term indwelling catheter, the catheter should be changed under treatment.
15.2.3 Management of a diabetes emergency
Diabetes is a common metabolic complication of FRDA, and both insulin deficiency and insulin resistance have been implicated in the development of diabetes in FRDA (21). Diabetic ketoacidosis (DKA), although rare, may be the first presentation of diabetes in FRDA to the emergency department (22).
There is no published evidence to suggest that the management of DKA in FRDA should be different from standard care; however, it is postulated that due to insufficient insulin secretion by pancreatic beta cells (23) and insulin resistance (24), DKA in individuals with FRDA may need a higher dose of insulin therapy.
Trauma assessment
QUESTION: Should assessment consider (cardiac cause, low threshold for X-ray due to spasticity) versus standard assessment be used for people presenting with trauma with Friedreich ataxia?
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RECOMMENDATION: We suggest thorough and careful multi-disciplinary assessment of the causes and effects of falls should be performed for individuals with Friedreich ataxia presenting to the emergency department with a fall over standard assessment, taking into consideration factors such as neurological progression, cardiac arrhythmia, hypotension, uncontrolled or newly presenting diabetes. More advanced imaging such as CT or MRI scan may be necessary to assess for any spinal cord or nerve root compression, or for complications related to any prior scoliosis surgery, such as rod infection or migration.
JUSTIFICATION: There is no published evidence examining the best assessment of falls in individuals with Friedreich ataxia. However, a thorough assessment is clinically appropriate and secondary consequences associated with reduced mobility and immobilization are clear.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia presenting to an emergency department with trauma.
Evidence to Recommendation Table PDFTrauma management
QUESTION: Should management consider (intra-operative management of orthopedic trauma, fast return to weight-bearing and minimizing immobilization where possible) versus standard management be used for people presenting with trauma with Friedreich ataxia?
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RECOMMENDATION: We suggest that trauma management approaches that minimize the time spent immobilized might be considered, with careful consideration of the risks and benefits related to each individual with Friedreich ataxia.
JUSTIFICATION: There is no published evidence examining the best management of falls in individuals with Friedreich ataxia. However, a thorough assessment is clinically appropriate and secondary consequences associated with reduced mobility and immobilization are clear.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia presenting to an emergency department with trauma.
Evidence to Recommendation Table PDFBladder scan for urinary tract infection
QUESTION: Should bladder scan versus standard assessment be used for people presenting with urinary tract infection (UTI) with Friedreich ataxia?
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RECOMMENDATION: The assessment of UTIs in the emergency department for individuals with Friedreich ataxia should not be fundamentally different from standard care in individuals without Friedreich ataxia. However, we recommend reviewing self-catheterization technique, if appropriate, and performing diagnostic evaluation to assess for elevated residual urine (including a bladder scan) and morphological causes (including an ultrasound of the kidneys, ureters and bladder (KUB) and outpatient cystoscopy).
JUSTIFICATION: Individuals with Friedreich ataxia have risk factors for increased incidence of UTIs, including neurogenic bladder and diabetes mellitus. Individuals with Friedreich ataxia and lower urinary tract symptoms should therefore be screened for the presence of a UTI and have a bladder scan to assess for any associated urinary retention.
Diagnosis of UTI in individuals with Friedreich ataxia is challenging because they may have lower urinary tract symptoms with no laboratory evidence of infection, or they may have bacteriuria in the context of self-catheterization or using an indwelling catheter.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia with urinary tract infection. Bladder scans may be contraindicated if there is open skin or a wound in the suprapubic region. In addition, care needs to be taken with bladder scans in pregnant women to ensure the bladder, not the uterus, is visualized.
Evidence to Recommendation Table PDFInsulin for hyperglycemia presentations
QUESTION: Should Insulin therapy – act rapid (different to other people with hyperglycemia) versus same as other people with hyperglycemia be used for people presenting with hyperglycemia with Friedreich ataxia?
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RECOMMENDATION: We suggest routine diabetes screening using an appropriate test in all individuals with Friedreich ataxia who present to the emergency department, even in the event of a seemingly unrelated complaint. Once hyperglycemia has been determined, management in individuals with Friedreich ataxia should not be fundamentally different to the management of hyperglycemia in individuals without Friedreich ataxia, but with the following consideration: individuals with Friedreich ataxia and diabetic ketoacidosis may need a higher dose of insulin therapy as a result of insulin deficiency and insulin resistance in Friedreich ataxia.
JUSTIFICATION: There is an increased risk of diabetes mellitus in individuals with Friedreich ataxia (even at lower body mass index) and the possibility of substantial insulin deficiency (including diabetic ketoacidosis) in individuals with Friedreich ataxia. Individuals with Friedreich ataxia are more likely to have decreased insulin secretion and therefore faster progression of diabetes mellitus compared to adults without Friedreich ataxia with type 2 diabetes mellitus.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia presenting to the emergency department with hyperglycemia.
Evidence to Recommendation Table PDFPlease refer to Chapter 3.4 for further details on the best management of spasticity and or spasms.
Treatment of any orthopedic injury may require a coordinated multi-disciplinary approach in an inpatient rather than outpatient or community setting, due to the potential for decline in function. This should be assessed on an individualized basis.
Lay summary of clinical recommendations for other emergency department presentations in Friedreich ataxia
Why these recommendations?
People with Friedreich ataxia may present to the hospital emergency department with various problems, such as a fall, urinary tract infection or an emergency related to diabetes. It is important that the emergency department staff are aware that there may be specific assessment and management considerations needed for people with Friedreich ataxia.
Trauma due to a fall
There are a number of reasons why people with Friedreich ataxia may have a higher risk of falls than other people, such as problems with coordination and sensation, bony deformity, muscle weakness or spasticity. People with Friedreich ataxia may have thinner bones and may be more likely to have a bone fracture following a fall.
If a person with Friedreich ataxia has a fall and presents to the emergency department, it is important that a thorough assessment is done for the causes and effects of the fall, taking into consideration all the possible factors related to Friedreich ataxia. We suggest that this is done by a multi-disciplinary team (involving several different health professionals), and there may be specific imaging tests required. We also suggest that in managing the trauma from a fall, the person with Friedreich ataxia is helped to move again as soon as it is safe, so that their mobility or function is not negatively affected by prolonged immobilisation.
Urinary tract infection
People with Friedreich ataxia often have urinary problems and have an increased risk of urinary tract infections (UTI) compared to the general population. If a person with Friedreich ataxia presents to the emergency department with symptoms of UTI, we strongly recommend that the assessment should be similar to that for any other person presenting with UTI, with the addition that they may need to have their catheter technique checked, if using one. Also, an ultrasound scan may be needed to check for any retention of urine in the bladder or other causes of UTI.
Diabetes emergency
Diabetes is common in people with Friedreich ataxia. However, occasionally the diagnosis is made for the first time in a person who presents to the emergency department with a serious diabetes complication called diabetic ketoacidosis (DKA). This is where the body produces excess blood acids (ketones), and it may present with symptoms such as nausea and vomiting or feeling confused.
We suggest that any person with Friedreich ataxia presenting to an emergency department should have a screening test (usually a blood test) for diabetes, even if that is not the reason they went to hospital. Also, if a person with Friedreich ataxia has been diagnosed with DKA, a higher dose of insulin may be needed to treat DKA because of both low insulin production and insulin resistance in Friedreich ataxia.
What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?
If you or a person you care for present to the emergency department with trauma due to a fall, urinary problems or symptoms of diabetes, the treating team would need to carefully consider factors related to your Friedreich ataxia in your assessment and treatment.
Who is these recommendations specifically for?
These recommendations are for all individuals with Friedreich ataxia presenting to the emergency department.
Hamed Akhlaghi, MD, PhD, FACEM, GradDipClinUSS
Head of Emergency Medicine Research, St Vincent’s Hospital (Melbourne), Melbourne, Victoria, Australia
Email: hamed.akhlaghi@svha.org.au
Noushin Chini Foroush, MD
Neurology Registrar, Monash Medical Centre, Melbourne, Victoria, Australia
Email: noushin.chiniforoush@gmail.com
Anne Fournier, MD, FRCPC
Professor of Pediatrics, University of Montreal, Montreal, Québec, Canada
Email: anne.fournier@umontreal.ca
Yenni Lie, MBBS, FRACP
Neurologist, Monash Health, Melbourne, Victoria, Australia
Email: yenni.lie@monashhealth.org
Roger E. Peverill, MBBS, PhD
Cardiologist, MonashHeart, Monash Health, Clayton, Victoria, Australia
Email: roger.peverill@monash.edu
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These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.