A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

Table 3 Survival status of patients with ASMD type B or type A/B

Parameter	Overall (N = 33)	ASMD type B (n = 24)	ASMD type A/B (n = 9)
Survival status at the time of data extraction [n (%)]^a
Survivors	24 (72.7%)	20 (83.3%)	4 (44.4%)
Age at death (years)
Number	9	4	5
Mean (SD)	21.2 (21.1)	33.1 (27.1)	11.7 (9.2)
Median [IQR]	17.0 [5.0–25.0]	31.0 [11.0–55.0]	9.0 [4.0–18.0]
Range	3.0–65.0	5.0–65.0	3.0–25.0
Cause of death (related to ASMD) [n(%)]^b
Liver disease^c	2 (22.2)	1 (25.0)	1 (20.0)
Respiratory disease (respiratory failure/ insufficiency, pneumonia, pulmonary embolism, other, not known)	2 (22.2)	1 (25.0)	1 (20.0)
Severe progressive neurodegeneration	2 (22.2)	0	2 (40.0)
Bleeding	1 (11.1)	1 (25.0)	0
Multi-organ failure	1 (11.1)	1 (25.0)	0
Other^d	1 (11.1)	0	1 (20.0)

^aPercentages were calculated using the total number of patients with non-missing information on the analysed parameter as a denominator
^bPercentages were calculated using the total number of deceased patients with non-missing information on the analysed parameter as a denominator
^cThe specific category of liver disease as the primary cause of death was not evaluated. However, the cause of liver disease was ASMD-related (liver failure by progressive liver fibrosis) and not acute toxic or inflammatory liver disease or malignant liver disease
^dThe cause of death was specified as acute respiratory distress syndrome, followed by hydropic decompensation of liver cirrhosis
ASMD, acid sphingomyelinase deficiency; IQR, interquartile range; n, number of patients; SD, standard deviation

ISSN: 1750-1172