Fjk O'Callaghan

PP15.2 – 2888: Causes of death in individuals with tuberous sclerosis complex

Objective The causes of death in this group of patients have rarely been studied systematically, apart from one study from the Mayo clinic in 1991. The aims of this study are to reassess the causes and age of death in this patient group. Methods The clinical notes of 349 patients with a definite diagnosis of Tuberous Sclerosis Complex, who have attended the Bath TS clinic from 1991 to present, were reviewed. 18 have died. The post-mortems and death certificates of these 18 patients were reviewed. Results 16/18 patients died due to complications related to their TSC. 8/18 patients died from TS kidney related complications including chronic kidney failure, kidney bleeding, and renal cell carcinoma. 4/18 died due to SUDEP. 2/18 died from lymphangioleiomyomatosis. 1/18 died from SEGA, and 1 patient died due to a metastatic pancreatic tumour. The cause of death in 2/18 was considered not to be directly attributed to TSC. One died due to ischaemic heart disease and the other patient died due to pulmonary embolism. The median age of death was 33 years (IQR 26–46). No one died in the paediatric age range. Conclusion Death in the paediatric age range is rare. Death due to renal causes was the commonest cause of death in this group followed by SUDEP. In contrast to the previous report, SEGA was not a major cause of death, possibly reflecting the benefits of increased surveillance and improved surgical management in experienced specialist centres.

O3-4 The incidence of childhood stroke

Arteriopathy on MRA was graded as 0 (none), or as increasing severity grades 1, 2 or 3, by two radiologists blinded to the other data. Results: Despite no significant differences across the degrees of arteriopathy in genotype or hemoglobin, mean overnight SpO2 was higher (p< 0.01) in those with grade 0 (97.0±1.6%) than those with grades 2 (93.9±3.7%) or 3 (93.5±3.0%) arteriopathy (abnormal MRA). Reticulocyte count was lower (p< 0.01) in those with grade 0 (187±136*109/L) than those with grades 1 (466±322*109/L), 2 (450±239*109/L) and 3 (624±293*109/L) arteriopathy. In logistic regression, lower mean overnight SpO2 (Odds ratio 0.51, 95% confidence intervals, CI, 0.32 0.81; p< 0.01) predicted abnormal MRA. Higher reticulocyte count (Odds ratio 1.011, 95%CI 1.005 1.018; p< 0.01) was negatively correlated with mean overnight SpO2 and independently predicted abnormal MRA in a multivariable model, with a trend for an effect of lower mean overnight SpO2. Conclusion: Low nocturnal SpO2 and reticulocytosis are associated with intracranial arteriopathy on MRA in children with SCD. Preventative strategies might reduce stroke risk.

G329(P) Causes of mortality in individuals with tuberous sclerosis complex (TSC)

Objectives The causes of death in this group of patients have rarely been studied with the one published account from the Mayo Clinic appearing in 1991. We aimed to investigate mortality in a large clinical cohort of TSC patients to see whether causes of mortality have changed over time. Methods We have identified 284 TSC patients from our database at the Bath TSC clinic who have attended the clinic from 1981 to the present day. We reviewed the medical notes and if applicable, death certificates and post-mortem reports. Results 16 died secondary to complications of TSC: eight from TSC kidney complications; four from SUDEP; two from lymphangioleiomyomatosis; one secondary to a SEGA; and one from a pancreatic malignancy. The median age of death was 33 years (IQR 26–46). No one died in the paediatric age range. Mortality was significantly more common in the learning difficulty than the non-learning difficulty patients (9% vs 2%, p = 0.02). Conclusion Renal disease is a major cause of mortality. Lifelong surveillance of renal lesions and early intervention is warranted. SUDEP is also a significant cause of mortality. LD patients are at significantly greater risk of early mortality and thus implies the need for greater vigilance for TSC related complications in this group. Female patients are vulnerable to pulmonary and renal disease. All post-pubertal female patients should be screened for LAM and treated where appropriate. Pancreatic lesions are also a rare and potentially treatable cause of mortality.