Von Hippel-Lindau

Chief Complaint

Assessment of Von Hippel-Lindau Syndrome

Template

Thank you for referring [name], a [age] year old [gender], for assessment of Von Hippel-Lindau Syndrome. Consent: I obtained consent from the patient for use of an AI scribe software. I explained that [software_name] saves a copy of our conversation on their website for the purpose of generating a note, and that this software is FDA approved. History of Presenting Illness: Symptoms of pheochromocytoma/paraganglioma: [paroxysms of flushing, headache, sweating, pallor, tremors, anxiety, palpitations, chest pain, dyspnea] Symptoms of neuroendocrine tumor: [hypoglycemia, heart burn, flushing, diarrhea, weight loss, necrolytic migratory erythema, bronchospasm] Hemangioblastoma (brain, spine, retina): [vision loss, headache, vomiting, gait disturbance, neuropathic pain, sensory loss, motor loss] Renal cyst/clear cell renal cell carcinoma: Pancreatic neuroendocrine tumors: Endolymphatic sac tumor: [hearing loss, ataxia] Epididymal and broad ligament cystadenomas: [testicular pain, pelvic pain] Symptoms of Cushing's syndrome: [abdominal striae, weight gain, skin thinning, easy bruising, facial plethora, weight redistribution, proximal muscle weakness, osteoporosis/fractures, hirsutism, VTE, hypertension, hyperglycemia] Symptoms of hyperaldosteronism: [hypertension, hypokalemia] Symptoms of hyperandrogenism: [hirsutism, clitoromegaly, voice deepening, increased musculature, male pattern baldness, irritability] B-symptoms: Medical history: [medical_history] (List numerically with each having its own line) Medications: [medications] (List numerically with each having its own line) [Exogenous steroids] [Medications that will affect testing] Allergies: [allergies] (List numerically with each having its own line) Social history: Work: [work] Extended coverage: [coverage] Alcohol: [alcohol] Cigarettes: [cigarettes] Drugs: [drugs] Family history: [family_history] There [is/is no] family history of [VHL, adrenal tumors, pituitary tumors, pancreatic tumors, medullary thyroid cancer, or other malignancies]. Exam: [exam] Weight: [weight] Height: [height] Blood pressure: [blood_pressure] Heart rate: [heart_rate] [Neurologic examination] Investigations: [investigations] (List each investigation in its own line, not numerical, and arrange by date of investigation) [24 hour urine collection, with volume] [MR sella] Impression and Plan: [name] is a [age] [gender] with Von Hippel-Lindau Syndrome (VHL), diagnosed by [Dutch Criteria/Danish Criteria/genetic testing]. This is an autosomal dominant disorder characterized by a variety of tumors. [The differential includes isolated tumors versus syndrome presentation.] The patient has [tumors] and management will be through [VHL type 1 is characterized by a low risk of pheochromocytoma and typically patients will have retinal angioma, CNS hemangioblastoma, RCC, pancreatic cysts, and neuroendocrine tumors.] [VHL type 2 is characterized by a high risk of pheochromocytoma, and patients will typically have PCC, retinal hemangioblastomas, and CNS hemangioblastomas. It is further subdivided into 2A, which has a low risk of RCC, and 2B, which has a pancreatic cysts and neuroendocrine tumors as well as a high risk for RCC, and 2C, which presents with PCC only.] 1. Von Hippel-Lindau Syndrome: type [1/2A/2B/2C] - [I have provided the patient with a bloodwork requisition for further investigations for pheochromocytoma and neuroendocrine tumors, including 24h fractionated urine metanephrines and catecholamines, serum chromogranin A, electrolytes, insulin and C-peptide with blood glucose, and urine 5-HIAA] - [I have arranged for testing of the manifestations of VHL tumors, including renal US, brain and total spine MRI, ophthalmology referral for assessment and management of possible retinal hemangioblastomas, 24h urine metanephrines and catecholamines, audiology referral, MRI IAC] - [I have arranged for monitoring of VHL symptoms with MR brain and total spine every 2 years, ophthalmology exam annually, abdominal MRI every 2 years, annual 24h urine metanephrines and catecholamines, audiology assessments every 2 to 3 years, and MRI of the internal auditory canals] - [Management of pheochromocytoma is typically through surgery, and I have made a referral to Dr. Kristan Stuart. I have initiated alpha blockade with doxazosin 1mg PO daily, with plans to titrate to a target BP <120/80 seated and SBP >90 standing. Once the patient is sufficiently alpha blocked, I will initiate noncardioselective beta blockade with propranolol 10mg PO QID.] - [I have advised the patient to liberalize their salt intake and to maintain euvolemia leading up to the surgery] - [Management of hemangioblastomas is typically through surgery, with new evidence emerging for the use of belzutifan, a HIF-2a inhibitor. I have referred the patient to neurosurgery for further evaluation] - [Management of spinal hemangioblastomas is typically through surgery and preoperative arterial embolization, and I have made a referral to neurosurgery] - [Management of renal cell carcinoma can be through radiofrequency ablation or surgery, and I have referred the patient to urology] - [I have counselled the patients to avoid smoking] - [I have counselled the patient that VHL is a genetic disorder and their family members should be tested for mutations in the VHL gene. I have also counselled the patient on the implications that this has for their children. I offered the patient options for genetic testing, including a referral to a geneticist or through [genetic_testing_service].] Targeted therapies: [targeted_therapies] Supportive care with surgery or RFA for tumors Thank you for involving me in the care of this pleasant patient. Please do not hesitate to contact me with any questions or concerns. Dr. [name], MD, FRCPC [clinic]