Ali Saad, MD

Thijs V, Grittner U, Dichgans M, Enzinger C, Fazekas F, Giese AK, et al. Family History in Young Patients With Stroke. Stroke. 2015

This group asked the question of whether family history mattered depending on your stroke type and sex. they used the database from a prospective Fabry disease study. the participants were aged 18-55.

Work up for everyone entailed:
– bloods: routine bloods, crp, ana, anc, RF, Factor V, prothrombin, antiphospholipid, fabry work up with alpha galactosidase screening
– cardiac ultrasound
– ekg

They found that 37.3% of about 4000 TIA/stroke pts had a positive family history of some kind of stroke (including bleeds and vasculitis). The split between whether the stroke history came from the mother or father’s side was 50-50. however females tended to have more maternal than paternal lineage history (54.6% vs 45.4%, p=0.027). Patients with a parental history of stroke also more commonly had siblings with stroke, although the absolute difference wasn’t that great (3.6% vs 2.6%, p=0.047). Patients with a family history of strokes in the parents were not more likely to have children with strokes (0.3% vs 0.2%, p=0.75).

They found no association for stroke subtype by TOAST criteria. cervical artery dissection actually had a lower frequency of family history of stroke.

One of the strengths of this study is that they used MRI-confirmed strokes 82% of the time and didn’t just rely on clinical assessment.

These findings are line with coronary heart disease having family history as an established risk factor.

Limitations of this study include:
– limited to a European population
– no control group
– pediatric population was not included
– carotid imaging was not mentioned as one of the diagnostics they did in the work up
– genetics aside, similar environments and lifestyles among family members could be potential confounders
– given the patient population is relatively young, TOAST criteria may not be the best modality for classifying stroke subtype as the patients are less likely to have large vessel athero or cardioembolic strokes so this method is likely underpowered
– the effect on women may be underestimated as the parents of this patient population are relatively young compared to other cohorts and women are more likely to have their strokes at an older age
– the study relies on self reported family history of stroke, the criteria for which were not clearly defined. in my experience, patients often confuse MI and other diagnoses with what they believe to be a stroke.

How does this study change my practice?
I’ll continue to take a focused family history as I think it’s just part of being a good doctor, but in the absence of a clear genetic hypercoagulable state and I can say that there is a study showing that a family history may put you at risk but stronger evidence is needed. I don’t think this information currently has any practical implications for direct patient care.