Author Of 4 Presentations
P0262 - Searching for Fabry disease in previously diagnosed CIS and defined MS patients: a cohort study. (ID 1693)
Abstract
Background
Fabry disease (FD) is a rare panethnic x-linked lysosomal storage disorder that can mimic MS, and thus must be considered in differential diagnosis. While clinical profile and MRI studies can overlap, some other considerations help distinguish them, like presence of CSF oligoclonal bands and medullary demyelinating lesions for MS and multi-organ involvement and positive familiar history for FD. In our center a patient was diagnosed with MS in 2004, and with FD in 2015, due to in depth-analysis following the clue of a positive family history.
Objectives
To identify the possible presence of unacknowledged FD in a cohort of Italian patients previously diagnosed with CIS or MS.
Methods
We enrolled consecutive CIS and MS patient that fulfilled McDonald revised criteria referred to our center. In female subjects, the GLA gene was analyzed by PCR and sequencing of the entire coding region. In male subjects the concentration of the alpha-galactosidase enzyme in dry blood spot was measured with fluorescence spectroscopy. For these purposes we used Centogene diagnostic kit for Fabry disease.
Results
411 patients (300 females) were enrolled, 21 with a diagnosis of CIS and 390 with definite MS, mean age 45.5 years (SD:12.0), mean disease duration 15.3 years (SD:10.1), mean EDSS 2.5 (SD:1.9). No one of them presented pathogenic mutations of GLA gene or alpha-galactosidase deficiencies.
Conclusions
Although the diagnosis of FD must be ruled out when studying a patient with suspected MS, the systematic genetic or enzymatic analysis of every patient doesn’t appear necessary in everyday clinical practice. The analysis of GLA gene and of alpha-galactosidase activity should be reserved for patients with elements suspicious for FD, like a positive family history and multi organ involvement (especially renal impairment and angiokeratomas). Our patient with both the diagnosis, other than positive family history, later developed proteinuria as systemic dysfunction; she also showed demyelinating lesions on brain and spinal cord MRI, sometimes with Gadolinium enhancement, and intrathecal synthesis of oligoclonal bands (type 3). Clarifying the correct diagnosis is of fundamental importance due to the different therapeutic approaches.
P0773 - Variation of RNFL thickness in MS patients and DMTs: a longitudinal study. (ID 1184)
Abstract
Background
The measure of retinal nerve fiber layer (RNFL) thickness by OCT is a marker of neurodegeneration. It is known that RNFL, especially in the temporal sector, is thinner in MS patients than in healthy controls and this process occurs over time. No study has explored the possible relation between RNFL thickness and the use of DMTs to date.
Objectives
To evaluate the variation of RNFL over a follow-up of 2 years and its relation with DMTs in a group of relapsing MS patients.
Methods
Patients with relapsing-remitting MS were included and underwent a spectral-domain OCT at baseline, after 6, 12 and 24 months. In patients taking DMTs, the baseline was the time of DMT initiation. Global (G), temporal (T), and papillo-macular bundle (PMB) sectors of RNFL have been measured. Age, gender, EDSS, age at onset, and DMTs taken during the study have been collected. DMTs were divided in first (interferon beta, glatiramer acetate, dimetilfumarate, teriflunomide) and second line (natalizumab, ocrelizumab, alemtuzumab, fingolimod). The variation of RNLF during the follow-up was studied by ANOVA. By linear regression we analysed the G sector variation using as variables: DMT taken for longer time during the study by each patient, demographic and clinical features.
Results
One-hundred-one patients were included (78.2%: females; mean age and mean age at onset: 41.3 years (SD:9.7) and 30.5 (SD:9.4), respectively). Seven patients did not take any DMT during the study, and one patients started interferon beta 17 month after the baseline. At baseline: 21 subjects started with a second line DMT; 72 started with a first line DMT, and 9 of them shifted to a second line after a mean time of 17.3 months (SD:7.1). An over-time reduction of all the RNFL sectors has been found both in right (G: p<0.001; T: p<0.001; PMB: p=0.041) and in left eye (G: p<0.001; T: p<0.001; PMB: p=0.002). No relation has been found between the G sector thinning and clinical and demographic features, but a trend versus less thinning in patients with second line DMT has been shown.
Conclusions
We confirmed an over-time thinning of RNFL in patients with MS, also in a short follow-up of 2 years. No clinical and demographic variables seem to influence this phenomenon. Otherwise, even if our result is only a trend, the DMTs with more impact on the inflammation appear to slow down the thinning. A wider cohort with more patients taking second line DMTs is needed to better clarify this point.
P1003 - A cohort analysis of MS patients exposed to high-dose corticosteroids (ID 768)
Abstract
Background
Corticosteroids in high dose (HDC) is the recommended treatment for multiple sclerosis (MS) relapses. Most common first line treatment consists of three to five days courses of 1 g of intravenous methylprednisolone. The choice of HDC duration varies due to different clinical considerations.
Objectives
Our aim was to determine which demographic factors, comorbidities and MS clinical considerations led to the choice of a longer or shorter HDC course duration, also exploring the possible effect on clinical benefit reported by treated patients after one month.
Methods
MS subjects with a clinical relapse of MS or with MRI activity who underwent a treatment with HDC were enrolled. Demographics (sex and age), clinical features (type of relapse and EDSS) and medical history (occurrence of metabolic, immune and psychiatric comorbidities) were collected prior to HDC. After a month, subjective clinical benefit was also evaluated. Regression models were used to evaluate the relationships of HDC duration and clinical benefits after 1 month with demographic and medical variables.
Results
101 MS patients were enrolled (mean age 44 years, male 24.8%, mean EDSS 3.1). Most of them (92.1%) had a clinical relapse (31.1% with multisystem involvement), 7.9% only had brain MRI activity. 66.3% were on DMDs. 36.6% had comorbidities (autoimmune comorbidities 16.8%) and 45.8% had mood disorder. Linear regression showed that older age (p 0.039) and psychiatric comorbidities (p 0.019) correlate with the choice of shorter HDC treatment (3 days). Conversely, multisystem deficit relapses correlate with the choice of longer treatment (5 days) (p 0.001). Subjective clinical benefit after one month was only associated with EDSS score pre HCD treatment (p 0.004), while no association was reported with number of days of treatment.
Conclusions
Data suggests that some clinical factors, such as severity of relapse, age and comorbidities can affect the choice of HDC course duration. Shorter HDC treatments in selected patients appear to be an appropriate treatment option that does not affect the reported clinical benefit.
P1011 - Complications after lumbar puncture: a preliminary comparative analysis on the use of atraumatic vs standard needle (ID 805)
Abstract
Background
Lumbar puncture (LP) is a frequently used procedure in Multiple Sclerosis (MS) diagnosis. Atraumatic needles have been proposed to reduce complication rates after lumbar puncture (LP), despite this, many clinicians prefer to continue using standard needles.
Objectives
The study aimed to evaluate the frequency of post procedural headache, low back pain and other complications in a cohort of multiple sclerosis (MS) patients underwent LP by using atraumatic or standard needle.
Methods
The study included patients underwent the procedure of LP. Demographic (gender, age, BMI) and clinical features (disease duration) were collected for each patient. In addition, information on chronic headache and its treatment were also recorded. For each patient, it was indicated whether the LP was performed with the use of standard or atraumatic needle. Then, the occurrence of post-procedural complications (headache, low back pain and nausea) and the possible relationships with the type of needle used was investigated.
Results
The study included 100 patients (28% male; mean age 42.3±11.9 years). 21% of these had a history of chronic headache with use of medications for 5%. Regression analysis showed that lower body mass index (p 0.032) and younger age (p 0.002) were associated with the use of atraumatic needles, while no association was reported with gender. A lower frequency of post-procedural headache (31% vs 50.7%) and low back pain (34.5% vs 40.8%) were reported respectively by using atraumatic vs standard needles (p<0.05). Multivariate analyses showed that post-procedural headache, with a tendency toward statistical significance (p=0.058), but not low back pain and nausea were associated to the use of standard needles after controlling for other demographic variables. Finally, an association between lower back pain and female gender (p=0.018), and between nausea and lower BMI (p=0.032) were also reported.
Conclusions
Our data seem to suggest the usefulness of the atraumatic needle for PL to prevent post procedural headache. Further investigations into larger cohorts are needed.