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Updated: Jan 25, 2026
Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
Familial multiple sclerosis patients have a shorter delay in diagnosis than sporadic cases
Maria Steenhof1, Egon Stenager2, Nete Munk Nielsen3
1Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Denmark; Department of Neurology, Hospital of Southern Jutland, Sønderborg, Denmark; Odense Patient Data Explorative Network, Odense University Hospital, Odense, Denmark.
Background:
The diagnosis of multiple sclerosis (MS) is still complicated despite improvement in diagnostic guidelines. This means that time from first symptom to diagnosis in some cases is prolonged. Many aspects of MS aetiology are unknown, but the involvement of a genetic component is well established. This is also highlighted by the occurrence of familial MS cases, which represent 10-20% of all MS cases. We hypothesize that subsequent family members in a MS family, have a shorter time from onset of disease to diagnosis compared to sporadic MS cases. To investigate this, we have conducted a register study comparing time from onset to diagnosis in familial and sporadic MS cases.
Methods:
This is a nationwide register study based on information from the Danish Multiple Sclerosis Registry and the Danish Civil Registration System. We included familial (first-degree relatives) and sporadic MS cases and calculated time lag between onset and diagnosis of MS for sporadic MS cases and for1st, 2nd and 3rd family members within the MS families. Median test and Cox regression were the statistical methods used to compare the familial and sporadic groups.
Results:
We found that 2nd and 3rd affected family member had a significant shorter time from first symptom to diagnosis compared to sporadic MS cases (2nd family member: Hazard Ratio (HR): 1.12, CI: 1.03-1.21, p = 0.007 adjusted: HR: 0.95 p = 0.22, CI 0.89-1-03 and 3rd family member HR: 1.64 CI: 1.22-2.20, p = 0.001 adjusted model: HR: 1.70, p-value: 0.000, CI: 1.32-2.18). The same difference was not seen between 1st family members and sporadic cases (HR: 1.05, CI: 0.98-1.13, p = 0.15, adjusted: 0.98, p-value: 0.53, CI: 0.91-1.05). Estimated marginal mean delay in the four groups were 4.60 years (95% CI: 4.11-5.01) in1st family members, 4.23 years (3.71-4.75) in 2nd family members, 2.11 years (0.95-3.26) in 3rd family members and 4.99 years (4.99-4.99) in sporadic MS cases.
Conclusion:
The 2nd and 3rd family members in MS families tend do get diagnosed faster than sporadic cases. This has implications in the diagnostic process of familial MS cases.
Insights
Second and third family members diagnosed with multiple sclerosis (MS) experience a significantly shorter time from symptom onset to diagnosis compared to sporadic cases. This finding highlights potential improvements in diagnosing familial MS.
Area of Science:
- Neurology
- Genetics
- Epidemiology
Background:
- Multiple sclerosis (MS) diagnosis remains challenging despite improved guidelines, leading to prolonged time from symptom onset to diagnosis.
- A genetic component in MS etiology is well-established, evidenced by familial MS cases accounting for 10-20% of all diagnoses.
- Previous research suggests a potential for faster diagnosis in familial MS cases.
Purpose of the Study:
- To investigate the hypothesis that familial multiple sclerosis (MS) cases have a shorter time from disease onset to diagnosis compared to sporadic MS cases.
- To compare the diagnostic delay between first, second, and third affected family members within MS families and sporadic MS cases.
- To analyze the impact of family history on the diagnostic timeline for multiple sclerosis.
Main Methods:
- A nationwide register study utilizing data from the Danish Multiple Sclerosis Registry and the Danish Civil Registration System.
- Inclusion of familial (first-degree relatives) and sporadic MS cases.
- Calculation of time lag between onset and diagnosis using Median test and Cox regression for statistical comparison.
Main Results:
- Second (HR: 1.12, p=0.007) and third (HR: 1.64, p=0.001) affected family members showed a significantly shorter time from first symptom to diagnosis compared to sporadic MS cases.
- No significant difference in diagnostic time lag was observed between first-degree family members and sporadic MS cases (HR: 1.05, p=0.15).
- Estimated mean diagnostic delays were 4.60 years for 1st, 4.23 years for 2nd, 2.11 years for 3rd family members, and 4.99 years for sporadic MS cases.
Conclusions:
- Subsequent affected family members (2nd and 3rd) in multiple sclerosis (MS) families are diagnosed more rapidly than sporadic cases.
- The findings suggest that a family history of MS may facilitate earlier diagnosis.
- Implications for the diagnostic process of familial MS cases indicate a need for heightened awareness and potentially earlier screening in at-risk families.
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