Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2014; 15: 315–317
REVIEW ARTICLE
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Downloaded from informahealthcare.com by University of Washington on 01/22/15 For personal use only.
Inappropriate surgeries in amyotrophic lateral sclerosis: A still considerable issue
ELENI BAKOLA, PANAGIOTIS KOKOTIS, THOMAS ZAMBELIS & NIKOS KARANDREAS Laboratory of Electromyography and Clinical Neurophysiology, Department of Neurology, Aeginition Hospital, University of Athens, Athens, Greece
Abstract Owing to the variety of its clinical presentations, amyotrophic lateral sclerosis (ALS) may mimic several neurological syndromes and even lead to inappropriate surgical procedures. We wished to assess the impact of unnecessary surgical treatments among ALS patients, and therefore we retrospectively reviewed medical records of 164 consecutive ALS patients. We collected data on the clinical presentation of ALS at onset, the initial symptom that led the patients to seek medical care, the timing of diagnosis and surgical procedures attributed to the onset of symptoms. Results showed that among 164 consecutive patients with ALS, 13 (7.9%) were surgically treated as a consequence of false diagnosis. Despite this, these patients showed no statistically significant difference in time of diagnosis compared to non-operated patients. In conclusion, a small but not negligible number of ALS patients are misdiagnosed. The diagnostic pathway of these patients includes often specialists other than neurologists who should be more aware of this disease in order to avoid inappropriate surgical treatments and provide the patients the appropriate diagnostic and therapeutic procedure by referring them promptly to a neurologist. Key words: Amyotrophic lateral sclerosis, inappropriate surgeries, diagnostic pathway
Introduction Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of the human motor system. Population based studies have established that the crude annual incidence of ALS in Europe is 2.16 per 100,000 person years. Peak age at onset is 58–63 years for sporadic disease and 47–52 years for familial disease (1). The mean disease duration from symptom onset to death is approximately 39.2 months (2). The main presentations of ALS include: 1) limbonset ALS with a combination of upper and lower motor neuron (UMN and LMN) signs in the limbs; 2) bulbar-onset ALS, presenting with speech and swallowing difficulties and with limb signs and symptoms developing later in the course of the disease; 3) the less common primary lateral sclerosis with pure UMN involvement; and 4) progressive muscular atrophy (PMA) with pure LMN involvement (3). This variability of the clinical presentation combined with the absence of a useful biomarker in ALS, which remains primarily a clinical and electrophysiological
diagnosis (4,5), and the insidious course of the disease contribute to a diagnostic delay (6,7). Thus, early clinical signs of the disease may mimic several neurological syndromes such as myelopathy, radiculopathy, multifocal motor neuropathy or mononeuropathy. In some cases of misdiagnosis patients underwent a surgical procedure (8–10). The aim of this study was to investigate the incidence of unnecessary surgeries in our study population, to explore if the different clinical manifestation of ALS eventually influenced the time of diagnosis or misled to a false surgical treatment. Materials and methods We retrospectively reviewed medical records of consecutive ALS patients examined at our laboratory between 2007 and 2012. We collected data on the clinical presentation of ALS at onset, the initial symptom that led the patients to a doctor, the timing of diagnosis and surgical procedures attributed to the onset of symptoms. In the case of surgical
Correspondence: E. Bakola, Laboratory of Electromyography and Clinical Neurophysiology, Department of Neurology, Aeginition Hospital, University of Athens, Athens, Greece. E-mail: [email protected] (Received 26 August 2013 ; accepted 3 December 2013) ISSN 2167-8421 print/ISSN 2167-9223 online © 2014 Informa Healthcare DOI: 10.3109/21678421.2013.873052
316
E. Bakola et al.
Table I. Patients’ characteristics.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Downloaded from informahealthcare.com by University of Washington on 01/22/15 For personal use only.
Gender (male/female) Age at onset (years) Age at diagnosis (years) Time to diagnosis non-operated (months) Time to diagnosis operated (months)
Limb onset
Bulbar onset
PMA
69/35 61.6 62.8 13.1
19/23 64.3 65.5 12.9
13/5 62.2 64.4 21.25
22.6
12
15
treatment prior to diagnosis of ALS we explored whether the patients showed any improvement. Data were stored, extracted and statistically analyzed using Microsoft Access and Statistica, Statsoft, USA. Results We reviewed the medical records of 164 patients (62 females and 102 males) with ALS. Among them there were 104 patients with limb-onset ALS, 42 with bulbar onset and 18 with PMA (Table I). No patient with PLS was identified. The mean age of all patients at symptom onset was 62.4 years, and mean age at diagnosis was 63.9 years. The mean age at diagnosis in the three subgroups was 62.8 years for limb onset, 65.5 years for bulbar onset and 64.4 years for PMA onset. Mean time from first symptoms to diagnosis was 14.2 months overall. No significant difference was noted in the time of diagnosis between the bulbaronset group (12.9 months) and the patients without bulbar onset (14.7 months, p ⫽ 0.47). Thirteen patients in our study underwent surgery due to symptoms retrospectively attributed to ALS (7.9%): nine patients underwent spinal decompression surgery (two cervical, seven lumbar), three patients had carpal tunnel release surgery and one patient underwent a vocal cord polypectomy. Symptoms leading to spinal surgery were muscle weakness and gait difficulty; hand weakness was the symptom responsible for the carpal tunnel decompressions and vocal cord polypectomy was performed in the case of the patient with dysarthria. No improvement was documented in any of these patients. As expected, the difference in inappropriate surgical treatments was significant between the nonbulbar-onset group (12/122) and the bulbar-onset group (1/42, p ⫽ 0.0001). Non-operated patients had an earlier diagnosis (13.8 months) than the operated patients (19.2 months), which, however, did not attain statistical significance (p ⫽ 0.18). No differences in gender were noted among operated patients (six males, seven females). Discussion To the best of our knowledge the incidence of inappropriate surgeries in ALS patients has been reported
in three studies to date (8–10). In a German group of Kraemer et al. (10), 12 out of 100 ALS studied patients (12%) underwent surgery due to symptoms retrospectively attributable to ALS. Ten of these patients had spinal decompression surgery, one had sulcus ulnaris decompression and one presenting bulbar symptoms underwent strumectomy. The incidence was similar in the American study of Srinivasan et al. (9), who reported unnecessary surgeries in 34 out of 260 patients (13%), mainly spinal, knee and carpal tunnel surgeries. We have found a lower incidence (7.9%) compared to these two studies. An even lower incidence of 4.2% was revealed in the large American study of Yoshor et al. (8), which, however, included exclusively inappropriate spinal surgeries. An important limitation in the interpretation of our data is the small number of patients. However, the former two studies (9,10) comprised a similar number of patients. A remarkable difference between our study and the Yoshor (8) and Kraemer (10) studies is that the diagnosis of ALS in our surgically treated patients was not more delayed relative to symptom onset than in ALS patients who did not undergo any surgical treatment. In several studies (6,11,12) a shorter mean time to diagnosis is suggested when there was bulbar symptom onset. A possible explanation is that limbonset ALS implies a more complex differential diagnosis (11). In our study the interval between symptom and diagnosis was only slightly shorter in the bulbar-onset patients and reached no statistical significance compared to the non-bulbar-onset patients. The particularities of the Greek health system where the patient is free to visit any specialist doctor without a referral may provide an explanation for these discrepancies. In the previous studies the authors report diagnostic pathways for the ALS patients. In our retrospective study the exact diagnostic pathways could not be defined. In most cases, however, the ALS patients examined in our laboratory had already visited other physicians. According to Kano et al. (12), the patients with limb-onset ALS who chose to consult an orthopaedist first after the onset of symptoms were diagnosed more than 10 months later than the limb-onset patients who chose to consult a neurologist first. In conclusion, given that an early diagnosis allows timely initiation of treatment and planning of the patient’s care, there is still a place for providing information and promoting the awareness of other specialities about ALS in order to decrease the interval between symptom onset and diagnosis and to avoid inappropriate surgical treatment. Declaration of interest: The authors report no confl icts of interest. The authors alone are responsible for the content and writing of the paper.
Inappropriate surgeries in ALS
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Downloaded from informahealthcare.com by University of Washington on 01/22/15 For personal use only.
References 1. Logroscino G, Traynor BJ, Hardiman O, Chiò A, Mitchell D, Swingler RJ, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry. 2010;81:385–90. 2. Millul A, Beghi E, Logroscino G, Micheli A, Vitelli E, Zardi A. Survival of patients with amyotrophic lateral sclerosis in a population based registry. Neuroepidemiology. 2005;25:114–9. 3. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55. 4. de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J, et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol. 2008;119:497–503. 5. Turner MR, Talbot K. Mimics and chameleons in motor neuron disease. Pract Neurol. 2013;13:153–64. 6. Househam E, Swash M. Diagnostic delay in amyotrophic lateral sclerosis: what scope for improvement? J Neurol Sci. 2000;180:76–81.
317
7. Iwasaki Y, Ikeda K, Ichikawa Y, Igarashi O, Kinoshita M. The diagnostic interval in amyotrophic lateral sclerosis. Clin Neurol Neurosurg. 2002;104:87–9. 8. Yoshor D, Klugh A 3rd, Appel SH, Haverkamp LJ. Incidence and characteristics of spinal decompression surgery after the onset of symptoms of amyotrophic lateral sclerosis. Neurosurgery. 2005;57:984–9. 9. Srinivasan J, Scala S, Jones HR, Saleh F, Russell JA. Inappropriate surgeries resulting from misdiagnosis of early amyotrophic lateral sclerosis. Muscle Nerve. 2006;34: 359–60. 10. Kraemer M, Buerger M, Berlit P. Diagnostic problems and delay of diagnosis in amyotrophic lateral sclerosis. Clin Neurol Neurosurg. 2010;112:103–5. 11. Dubrovsky AL, Sica RE. Current treatment pathways in ALS: a South American perspective. Neurology. 1999;53(8 Suppl 5):S11–6. 12. Kano O, Iwamoto K, Ito H, Kawase Y, Cridebring D, Ikeda K, et al. Limb-onset amyotrophic lateral sclerosis patients visiting orthopedist show a longer time to diagnosis since symptom onset. BMC Neurol. 2013;13:19.
REVIEW ARTICLE
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Downloaded from informahealthcare.com by University of Washington on 01/22/15 For personal use only.
Inappropriate surgeries in amyotrophic lateral sclerosis: A still considerable issue
ELENI BAKOLA, PANAGIOTIS KOKOTIS, THOMAS ZAMBELIS & NIKOS KARANDREAS Laboratory of Electromyography and Clinical Neurophysiology, Department of Neurology, Aeginition Hospital, University of Athens, Athens, Greece
Abstract Owing to the variety of its clinical presentations, amyotrophic lateral sclerosis (ALS) may mimic several neurological syndromes and even lead to inappropriate surgical procedures. We wished to assess the impact of unnecessary surgical treatments among ALS patients, and therefore we retrospectively reviewed medical records of 164 consecutive ALS patients. We collected data on the clinical presentation of ALS at onset, the initial symptom that led the patients to seek medical care, the timing of diagnosis and surgical procedures attributed to the onset of symptoms. Results showed that among 164 consecutive patients with ALS, 13 (7.9%) were surgically treated as a consequence of false diagnosis. Despite this, these patients showed no statistically significant difference in time of diagnosis compared to non-operated patients. In conclusion, a small but not negligible number of ALS patients are misdiagnosed. The diagnostic pathway of these patients includes often specialists other than neurologists who should be more aware of this disease in order to avoid inappropriate surgical treatments and provide the patients the appropriate diagnostic and therapeutic procedure by referring them promptly to a neurologist. Key words: Amyotrophic lateral sclerosis, inappropriate surgeries, diagnostic pathway
Introduction Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of the human motor system. Population based studies have established that the crude annual incidence of ALS in Europe is 2.16 per 100,000 person years. Peak age at onset is 58–63 years for sporadic disease and 47–52 years for familial disease (1). The mean disease duration from symptom onset to death is approximately 39.2 months (2). The main presentations of ALS include: 1) limbonset ALS with a combination of upper and lower motor neuron (UMN and LMN) signs in the limbs; 2) bulbar-onset ALS, presenting with speech and swallowing difficulties and with limb signs and symptoms developing later in the course of the disease; 3) the less common primary lateral sclerosis with pure UMN involvement; and 4) progressive muscular atrophy (PMA) with pure LMN involvement (3). This variability of the clinical presentation combined with the absence of a useful biomarker in ALS, which remains primarily a clinical and electrophysiological
diagnosis (4,5), and the insidious course of the disease contribute to a diagnostic delay (6,7). Thus, early clinical signs of the disease may mimic several neurological syndromes such as myelopathy, radiculopathy, multifocal motor neuropathy or mononeuropathy. In some cases of misdiagnosis patients underwent a surgical procedure (8–10). The aim of this study was to investigate the incidence of unnecessary surgeries in our study population, to explore if the different clinical manifestation of ALS eventually influenced the time of diagnosis or misled to a false surgical treatment. Materials and methods We retrospectively reviewed medical records of consecutive ALS patients examined at our laboratory between 2007 and 2012. We collected data on the clinical presentation of ALS at onset, the initial symptom that led the patients to a doctor, the timing of diagnosis and surgical procedures attributed to the onset of symptoms. In the case of surgical
Correspondence: E. Bakola, Laboratory of Electromyography and Clinical Neurophysiology, Department of Neurology, Aeginition Hospital, University of Athens, Athens, Greece. E-mail: [email protected] (Received 26 August 2013 ; accepted 3 December 2013) ISSN 2167-8421 print/ISSN 2167-9223 online © 2014 Informa Healthcare DOI: 10.3109/21678421.2013.873052
316
E. Bakola et al.
Table I. Patients’ characteristics.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Downloaded from informahealthcare.com by University of Washington on 01/22/15 For personal use only.
Gender (male/female) Age at onset (years) Age at diagnosis (years) Time to diagnosis non-operated (months) Time to diagnosis operated (months)
Limb onset
Bulbar onset
PMA
69/35 61.6 62.8 13.1
19/23 64.3 65.5 12.9
13/5 62.2 64.4 21.25
22.6
12
15
treatment prior to diagnosis of ALS we explored whether the patients showed any improvement. Data were stored, extracted and statistically analyzed using Microsoft Access and Statistica, Statsoft, USA. Results We reviewed the medical records of 164 patients (62 females and 102 males) with ALS. Among them there were 104 patients with limb-onset ALS, 42 with bulbar onset and 18 with PMA (Table I). No patient with PLS was identified. The mean age of all patients at symptom onset was 62.4 years, and mean age at diagnosis was 63.9 years. The mean age at diagnosis in the three subgroups was 62.8 years for limb onset, 65.5 years for bulbar onset and 64.4 years for PMA onset. Mean time from first symptoms to diagnosis was 14.2 months overall. No significant difference was noted in the time of diagnosis between the bulbaronset group (12.9 months) and the patients without bulbar onset (14.7 months, p ⫽ 0.47). Thirteen patients in our study underwent surgery due to symptoms retrospectively attributed to ALS (7.9%): nine patients underwent spinal decompression surgery (two cervical, seven lumbar), three patients had carpal tunnel release surgery and one patient underwent a vocal cord polypectomy. Symptoms leading to spinal surgery were muscle weakness and gait difficulty; hand weakness was the symptom responsible for the carpal tunnel decompressions and vocal cord polypectomy was performed in the case of the patient with dysarthria. No improvement was documented in any of these patients. As expected, the difference in inappropriate surgical treatments was significant between the nonbulbar-onset group (12/122) and the bulbar-onset group (1/42, p ⫽ 0.0001). Non-operated patients had an earlier diagnosis (13.8 months) than the operated patients (19.2 months), which, however, did not attain statistical significance (p ⫽ 0.18). No differences in gender were noted among operated patients (six males, seven females). Discussion To the best of our knowledge the incidence of inappropriate surgeries in ALS patients has been reported
in three studies to date (8–10). In a German group of Kraemer et al. (10), 12 out of 100 ALS studied patients (12%) underwent surgery due to symptoms retrospectively attributable to ALS. Ten of these patients had spinal decompression surgery, one had sulcus ulnaris decompression and one presenting bulbar symptoms underwent strumectomy. The incidence was similar in the American study of Srinivasan et al. (9), who reported unnecessary surgeries in 34 out of 260 patients (13%), mainly spinal, knee and carpal tunnel surgeries. We have found a lower incidence (7.9%) compared to these two studies. An even lower incidence of 4.2% was revealed in the large American study of Yoshor et al. (8), which, however, included exclusively inappropriate spinal surgeries. An important limitation in the interpretation of our data is the small number of patients. However, the former two studies (9,10) comprised a similar number of patients. A remarkable difference between our study and the Yoshor (8) and Kraemer (10) studies is that the diagnosis of ALS in our surgically treated patients was not more delayed relative to symptom onset than in ALS patients who did not undergo any surgical treatment. In several studies (6,11,12) a shorter mean time to diagnosis is suggested when there was bulbar symptom onset. A possible explanation is that limbonset ALS implies a more complex differential diagnosis (11). In our study the interval between symptom and diagnosis was only slightly shorter in the bulbar-onset patients and reached no statistical significance compared to the non-bulbar-onset patients. The particularities of the Greek health system where the patient is free to visit any specialist doctor without a referral may provide an explanation for these discrepancies. In the previous studies the authors report diagnostic pathways for the ALS patients. In our retrospective study the exact diagnostic pathways could not be defined. In most cases, however, the ALS patients examined in our laboratory had already visited other physicians. According to Kano et al. (12), the patients with limb-onset ALS who chose to consult an orthopaedist first after the onset of symptoms were diagnosed more than 10 months later than the limb-onset patients who chose to consult a neurologist first. In conclusion, given that an early diagnosis allows timely initiation of treatment and planning of the patient’s care, there is still a place for providing information and promoting the awareness of other specialities about ALS in order to decrease the interval between symptom onset and diagnosis and to avoid inappropriate surgical treatment. Declaration of interest: The authors report no confl icts of interest. The authors alone are responsible for the content and writing of the paper.
Inappropriate surgeries in ALS
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Downloaded from informahealthcare.com by University of Washington on 01/22/15 For personal use only.
References 1. Logroscino G, Traynor BJ, Hardiman O, Chiò A, Mitchell D, Swingler RJ, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry. 2010;81:385–90. 2. Millul A, Beghi E, Logroscino G, Micheli A, Vitelli E, Zardi A. Survival of patients with amyotrophic lateral sclerosis in a population based registry. Neuroepidemiology. 2005;25:114–9. 3. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55. 4. de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J, et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol. 2008;119:497–503. 5. Turner MR, Talbot K. Mimics and chameleons in motor neuron disease. Pract Neurol. 2013;13:153–64. 6. Househam E, Swash M. Diagnostic delay in amyotrophic lateral sclerosis: what scope for improvement? J Neurol Sci. 2000;180:76–81.
317
7. Iwasaki Y, Ikeda K, Ichikawa Y, Igarashi O, Kinoshita M. The diagnostic interval in amyotrophic lateral sclerosis. Clin Neurol Neurosurg. 2002;104:87–9. 8. Yoshor D, Klugh A 3rd, Appel SH, Haverkamp LJ. Incidence and characteristics of spinal decompression surgery after the onset of symptoms of amyotrophic lateral sclerosis. Neurosurgery. 2005;57:984–9. 9. Srinivasan J, Scala S, Jones HR, Saleh F, Russell JA. Inappropriate surgeries resulting from misdiagnosis of early amyotrophic lateral sclerosis. Muscle Nerve. 2006;34: 359–60. 10. Kraemer M, Buerger M, Berlit P. Diagnostic problems and delay of diagnosis in amyotrophic lateral sclerosis. Clin Neurol Neurosurg. 2010;112:103–5. 11. Dubrovsky AL, Sica RE. Current treatment pathways in ALS: a South American perspective. Neurology. 1999;53(8 Suppl 5):S11–6. 12. Kano O, Iwamoto K, Ito H, Kawase Y, Cridebring D, Ikeda K, et al. Limb-onset amyotrophic lateral sclerosis patients visiting orthopedist show a longer time to diagnosis since symptom onset. BMC Neurol. 2013;13:19.
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