Terminal Phase In Herlitz Jeb: Experiences And Data

WingYan Yuen, Groningen

Junctional epidermolysis bullosa, type Herlitz (JEB-H) is a rare autosomal recessive disease characterized by extensive and devastating blistering of the skin and mucous membranes, leading to death in early childhood. Our objective is to present the long-term follow-up of a cohort of JEB-H patients, to give guidelines for prognosis, treatment and care, and to identify the needs of parents who have lost their child to JEB-H. All JEB-H patients registered in the Dutch Epidermolysis Bullosa Registry between 1988 and 2011 were followed longitudinally by our EB team. In total, we included 22 JEB-H patients over a 23-year period. Fourteen of their parents were willing to cooperate in semi-structured in-depth interviews. The average age at death of the patients was 5.8 months (range 0.5-32.6 months).

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The causes of death were, in order of frequency, failure to thrive, respiratory failure, pneumonia, dehydration, anemia, sepsis, and euthanasia. We cpuld not identify any predictors of livespan. Invasive treatments to extend life did not promote survival in our patients. Parents indicated that they have the need (1) for a fast and correct referral to a specialized EB clinic, (2) to be informed as honestly as possible about the diagnosis and lethal prognosis, (3) to have a structured network of care givers in the palliative care, (4) to be involved in the care and the medical decisions involving their child, (5) to be informed about the end-of-life and to discuss euthanasia, (6) for guidance and to have remembrances of their child, and (7) for genetic counseling. In conclusion, it is important to diagnose JEB-H as soon as possible after birth, so that the management can be shifted from life saving to comfort care. Furthermore, health care professionals should pay attention to the needs of the parents.

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