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.