Outcome and Follow-up
Based on multidisciplinary team discussion, the patient was given phenoxybenzamine 10mg per day to alleviate clinical symptoms. Palpitations and sweating were relieved after initiation of α-adrenoceptor blocker therapy. Blood pressure remained normal and stable. Blood glucose levels were kept in good control by single oral anti-diabetic agent. Besides, the patient was required to have yearly examinations, including endocrine function checkup and MRI scans. Plasma catecholamines, plasma metanephrine and normetanephrine (MNs), and urinary vanillylmandelic acid had maintained in the normal range since 2015. MRI scans revealed a gradual enlargement in the para-aortic nodule (). A new contrast-enhanced lesion in the right kidney was discovered (Figure 1). Pancreatic cysts decreased in size while renal cysts grew larger. The patient had recurrent phaeochromocytomas and multiorgan cysts, as well as a positive family history, which was highly indicative of VHL disease. With the patient’s consent, we underwent a PPGL genetic testing in September 2020, and discovered a heterozygous pathogenic mutation of the VHL gene (NM_000551.3:c.278G>A). We also focused on target organ management. Electrocardiograph, echocardiogram, renal function and funduscopic examinations were assessed yearly. No cardiac vascular diseases, kidney function decline or retinal alterations were observed. Vascular ultrasound showed arterial atherosclerosis with multiple plaques at the beginning of the observation. Antiplatelet agents (aspirin 100mg per day) and lipid-lowering drug (Lipitor 10mg per day) was given since 2017. The vascular changes were successfully reversed at the last review in 2021.