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

Table 4 Clinical findings related to ASMD based on ASMD type

Parameter	Overall (N = 33)	ASMD type B (n = 24)	ASMD type A/B (n = 9)
Splenic clinical findings^a
At least one clinical finding/complication^{b, c}	32 (100.0)	24 (100.0)	8 (100.0)
Type of splenic clinical findings [n(%)]^{d, e}
Number^f	32	24	8
Splenomegaly	31 (96.9)	23 (95.8)	8 (100.0)
Hypersplenism	8 (25.0)	6 (25.0)	2 (25.0)
Splenic infarction	2 (6.3)	2 (8.3)	0
Liver clinical findings^g
At least one clinical finding/complication	31 (93.9)	22 (91.7)	9 (100.0)
No clinical findings/complications	2 (6.1)	2 (8.3)	0
Type of liver clinical finding [n(%)]^{d, e}
Number^f	31	22	9
Hepatomegaly	30 (96.8)	22 (100.0)	8 (88.9)
Liver cirrhosis	1 (3.2)	0	1 (11.1)
Portal hypertension	2 (6.5)	2 (9.1)	0
Ascites	2 (6.5)	2 (9.1)	0
Other	2 (6.5)	2 (9.1)	0
Respiratory clinical findings^h
At least one clinical finding/complicationⁱ	24 (77.4)	18 (75.0)	6 (85.7)
No clinical findings/complications	7 (22.6)	6 (25.0)	1 (14.3)
Type of respiratory clinical finding [n(%)]^{d, e}
Number^f	24	18	6
Interstitial lung disease	18 (75.0)	12 (66.7)	6 (100.0)
Alveolar infiltrates	3 (12.5)	1 (5.6)	2 (33.3)
Respiratory distress	4 (16.7)	1 (5.6)	3 (50.0)
Lower respiratory tract infection	9 (37.5)	7 (38.9)	2 (33.3)
Other	3 (12.5)	2 (11.1)	1 (16.7)

^aPercentages were calculated using the total number of patients (n = 32) with available data
^bPatients with splenectomy prior to the index date (defined as the first date of evidence of ASMD, either first symptom onset or diagnosis) were excluded
^cPatient with ASMD type A/B (n = 1) was excluded from the analysis owing to missing data
^dPercentages were calculated using the total number of patients with non-missing information on the analysed parameter as a denominator
^eMultiple responses were possible
^fPatients with any clinical findings for respective organs (spleen/liver/lungs)
^gPercentages were calculated using the total number of patients (n = 33) with available data
^hPercentages were calculated using the total number of patients (n = 31) with available data
ⁱASMD type A/B (n = 2) were excluded from the analysis due to missing data
ASMD, acid sphingomyelinase deficiency; n, number of patients

ISSN: 1750-1172