Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

Area of Science:

• Vascular Medicine
• Genetics
• Radiology

Background:

• Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder.
• Splenic involvement in HHT is uncommon, with few reported cases.
• Diagnosis of HHT relies on clinical criteria, such as the Curaçao criteria.

Purpose of the Study:

• To report a case of symptomatic splenic involvement in a patient with HHT.
• To highlight the utility of imaging modalities in diagnosing rare HHT manifestations.
• To emphasize the importance of considering HHT in patients with unexplained vascular abnormalities.

Main Methods:

• Case report of a 33-year-old male with epigastric pain, epistaxis, and family history of HHT.
• Diagnostic imaging included computed tomography (CT) and magnetic resonance imaging (MRI).
• Surgical intervention (splenectomy) and histopathological examination of the spleen.

Main Results:

• Imaging revealed splenomegaly, a hypervascular splenic mass, pulmonary arteriovenous malformation, and liver parenchymal changes suggestive of arteriosystemic shunts.
• The patient met the Curaçao criteria for HHT.
• Post-splenectomy, the patient's symptoms resolved; pathological examination confirmed abnormal splenic vessels, not a tumor.

Conclusions:

• Symptomatic splenic involvement is a rare but possible manifestation of HHT.
• Advanced imaging techniques are crucial for identifying and diagnosing such rare presentations.
• Splenectomy can be an effective treatment for symptomatic splenic lesions in HHT patients.