CLINICAL AND GENETIC ASPECTS OF ABNORMAL TORTUOSITY OF PRECEREBRAL ARTERIES IN ISCHEMIC STROKE

Background: Inherited connective tissue pathology is the most frequent genetic abnormality. Weakness of connective tissue in this group of disorders is manifested not only by excessive joint mobility, but also by abnormalities in other organs and systems, including vessels. In inherited connective tissue disorders brain artery aneurysms and abnormal vascular tortuosity is found that can be a risk factor for stroke.

Aim: To study frequency of abnormal tortuosities of brachiocephalic vessels in post-ischemic stroke patients, as well as efficacy of secondary stroke prevention in such patients.

Materials and methods: One hundred and seventy two adult patients with ischemic stroke were examined. Neurological deficiency was assessed with the National Institute of Health Stroke Scale (NIHSS) and with the modified Rankin scale. Abnormalities of precerebral arteries were found by ultrasound dopplerography and duplex scanning. To diagnose any abnormalities of connective tissue, clinical and genetic analysis, dermatoglyphic assessment and scoring of excessive joint mobility (Beyton scale) were used.

Results: Abnormal tortuosity of precerebral arteries is found in 47% of patients with ischemic stroke. The screening performed in 25 of such patients showed connective tissue disorders in one third of them (in 2 patients, Ehlers-Danlos syndrome, in 2 patients, connective tissue dysplasia, in 4 patients, mild symptoms of abnormal connective tissue, such as excessive joint mobility scoring to 1–2). In patients without inherited syndromes, some dermatoglyphic traits were found, i.e., distal shift of the axial palmar triradius, higher frequency of patterns on the skin of the thenar, lower pattern frequency on the skin of the hypothenar, higher frequency of simple digital patterns (A and T), lower frequency of complex patterns, such as whorls (W), lower palmar and digital ridgecounts. The results of secondary stroke prevention with antiplatelet agents, antihypertensives and cholesterol-lowering agents depended on patient compliance to medical recommendations. The odds ratio for a repeated stroke in the groups who were regularly taking these agents, compared to the groups who were not, was 0.116 for treatment with antiplatelet agents (p < 0.05) and 0.043 for antihypertensive therapy (p < 0.005).

Conclusion: Dysplasia of connective tissue can lead to formation of tortuous precerebral arteries and become an additional risk factor for strokes. Conventional antiplatelet, antihypertensive and cholesterol-lowering prophylaxis is effective in patients with tortuous precerebral arteries, but its results depend on patient compliance.