Q87.82

Clinical Causes: Mutations in the SLC2A10 gene, which provides instructions for making a protein involved in the structure of connective tissues. Inherited in an autosomal dominant or recessive pattern, meaning it can be passed down from one or both parents. Genetic variations leading to abnormal synthesis or function of connective tissue components, resulting in vessel wall weaknesses.

Key Symptoms: Elongation and twisting of arteries, especially in the head, neck, and limbs. Localized or diffuse arterial aneurysms that may threaten vessel integrity. Vascular dissection, which involves tearing within the arterial wall. Facial features such as a long face or high-arched palate (less common). Potential complications include strokes, transient ischemic attacks, or other blood flow disturbances. In some cases, no symptoms are present, and the condition is discovered incidentally during imaging studies for other reasons.

Diagnosis Path: Medical history review and physical examination to identify signs of arterial abnormalities. Imaging tests such as ultrasound, magnetic resonance angiography (MRA), or computed tomography angiography (CTA) to visualize arterial structure. Genetic testing to identify mutations in the SLC2A10 gene which confirm the diagnosis. Monitoring for signs of vascular complications over time through routine imaging.

Treatment Protocols: Regular monitoring of arterial health with imaging to detect any changes or developments. Medication with antihypertensive drugs to control blood pressure and reduce stress on arteries. Surgical interventions may be needed for aneurysms or dissections, including arterial repair or bypass procedures. Lifestyle modifications such as avoiding strenuous activities that may exacerbate arterial stress. Multidisciplinary approach involving cardiologists, genetic counselors, and vascular surgeons to manage complications.