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Accelerated brain infarction in hypertension complicated by hereditary heterozygous protein C deficiency
S Kazui1, Y Kuriyama, T Sakata
1Department of Medicine, National Cardiovascular Center, Osaka, Japan.
Insights
Hereditary heterozygous protein C deficiency, typically linked to venous clots, was observed in two hypertensive patients who developed multiple lacunar infarcts, suggesting a potential arterial risk factor.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Protein C deficiency impairs coagulation inhibition, increasing thrombosis risk.
- Venous thrombosis and pulmonary embolism are common; arterial thrombosis is rare.
- Hereditary heterozygous protein C deficiency is a genetic condition affecting blood clotting.
Observation:
- Two hypertensive patients with hereditary heterozygous protein C deficiency presented with neurological deficits.
- Magnetic resonance imaging revealed multiple lacunar infarcts in various brain structures.
- Reduced protein C activity and antigen levels were confirmed in both patients and some family members.
Findings:
- The patients were diagnosed with heterozygous protein C deficiency type 1.
- Multiple lacunar infarcts were observed in the brain, indicating cerebral artery involvement.
- This presentation is unusual given the typical association of protein C deficiency with venous thrombosis.
Implications:
- Protein C deficiency may contribute to cerebral artery thrombosis in hypertensive individuals.
- This finding expands the understanding of potential thrombotic risks associated with protein C deficiency.
- Further research is needed to clarify the link between protein C deficiency and arterial thrombosis, especially in the context of hypertension.
Background:
Protein C deficiency leads to reduced inhibition of coagulation and an increased likelihood of thrombosis. It is widely accepted that the most common syndromes associated with protein C deficiency are venous thrombosis and pulmonary thromboembolism, whereas arterial thrombosis is rare. Here we describe two patients with hypertension and hereditary heterozygous protein C deficiency who developed multiple lacunar infarcts.
Case Descriptions:
Patient 1 was a 46-year-old man with a history of hypertension who developed a right upper quadrantanopia and gradually progressive intellectual and behavioral deterioration. Patient 2 was a 61-year-old man with history of hypertension and two episodes of right-sided motor weakness who developed left sixth and seventh cranial-nerve palsies and reduced pinprick sensation in the right extremities. In both patients, magnetic resonance imaging revealed multiple small lesions in the pons as well as the bilateral basal ganglia, thalamus, corona radiata, and other subcortical structures, which are consistent with lacunar infarcts. Protein C activity and antigen levels were reduced to approximately one half of normal in these two patients, as well as in some of their family members who had no other serological or coagulation abnormalities. A diagnosis of heterozygous protein C deficiency type 1 was thus established.
Conclusions:
Although it remains uncertain whether protein C deficiency itself increases the risk of cerebral artery thrombosis, it may predispose a patient to develop multiple brain infarctions in association with hypertension.