1Kidney Health Service, Royal Brisbane And Women’s Hospital , Herston, Australia, 2University of Queensland, Herston, Australia
Background: HLRCC is an autosomal dominant disorder caused by FH mutations characterized by skin piloleiomyomas, uterine leiomyomas and RCC. The cumulative risk of RCC is 10-16% with mean age at first RCC diagnosis of 41years. Life-long RCC screening recommended.
Aim: To assess adherence to surveillance guidelines in an Australian HLRCC cohort, and to describe disease characteristics.
Method: All patients with a diagnosis (clinical/genetic) of HLRCC at RBWH from 01/01/2014-31/12/2017 were included (HREC/17/QRBW/276). All patients were assessed and counselled by a Clinical Geneticist then referred to an Adult Nephrologist. Baseline and incident clinical variables were extracted and analysed.
Results: 22 patients were identified with median age of 57years. 16/22 were female. The median and cumulative follow-up time were 2 and 37years respectively. 7/22 had Chronic Kidney Disease. Cutaneous leiomyoma were noted in 15/22, cutaneous leiomyosarcoma in 1/22, and uterine fibroids in 10/16 female patients.
RCC was diagnosed in 1/22 during surveillance (age 47years) with a second patient awaiting surgical intervention for potential RCC (age 66years). 4/22 had RCC diagnosed prior to commencement of surveillance (ages 11-43years) with 3/4 being from the same family. Surveillance MRI occurred in 19/22 patients, 1/22 was lost to follow up before first MRI, 1/22 is yet to have first MRI and 1/22 has experienced logistic difficulties due to residing in a rural setting. 18/22 patients have regular annual review. Of the remaining, 2/4 have been lost to follow up and 2/4 have been onward referred for follow up by their regional renal service
Conclusion: Evidence-based RCC screening is feasible and able to identify incident renal lesions. Multidisciplinary patient management enables expedited genetic counselling, diagnosis, longitudinal screening and RCC management.
Mohammad Al-shinnag is a Basic Physician Trainee who is currently working in Queensland Health. He has strong interest in clinical genetics. Mohammad Graduated from School of Medicine , Jordan University of Science and Technology in 2008 and moved to Brisbane, Australia in 2011 to start his Journey in clinical training