Immunological features of patients affected by Barraquer-Simons syndrome

Table 1 Clinical and demographical data of patients with BSS

Variable	BSS1	BSS2	BSS3	BSS4	BSS5	BSS6	BSS7	BSS8	BSS9	BSS10	BSS11	BSS12	BSS13	Reference
Sex	F	F	F	F	F	F	F	F	M	M	F	F	F
Age (years)	76	13	15	8	49	42	41	44	52	11	62	10	12
Lipodystrophy onset (years)	N/A	2	5	4	9	41	7	3	6	7	8	7	7
BMI (kg/m2)	24.3	19.3	18	16.3	19.8	22.3	33.8	22.7	23.5	21.3	26.1	16.5	22.7	18–25
% total fat^a	N/A	N/A	17.7	22	20.3	27.8	41.8	23	28.7	33.2	29.1	31.2	42.6	25–31 (Women) 18–24 (Men)
Acanthosis	No	No	No	No	No	No	No	No	No	No	No	No	No	Yes/No
Glucose (mg/dL)	79	85	69	86	83	93	82	102	84	90	107	94	84	60–110
Insulin (μU/mL)	15.8	10.4	10.7	13.5	N/A	N/A	18.5	9.8	13	14.3	33.3	9	4.74	2.6–24.9
Diabetes	No	No	No	No	No	No	No	No	No	No	Yes	No	No	Yes/No
HbA1c (%)	N/A	4.8	N/A	5.3	5.2	N/A	5.4	N/A	N/A	5.2	6.4	5.1	5.2	4.0–5.5
Hypoleptinemia	No	No	Yes	No	No	No	No	No	No	No	No	No	No	Yes/No
Triglycerides (mg/dL)	106	79	110	89	78	66	105	210	445	61	265	79	53	25–115
Total colesterol (mg/dL)	129	145	122	163	238	183	158	120	245	112	175	167	159	110–230
HDL-cholesterol (mg/dL)	57	62	N/A	42	69	70	63	35	45	45	37	44	66	40–70
LDL-cholesterol (mg/dL)	120	109	N/A	112	153.4	100	74	111	163	64	110	126	101	50–129
Fatty liver^b	No	No	No	No	No	No	Yes	No	No	Yes	Yes	No	No	Yes/No
ALT (UI/L)	33	28	13	24	31	20	60	21	21	15	24	22	28	5–31
AST (UI/L)	51	24	23	33	26	19	39	15	15	24	25	25	20	5–32
Hypertension	Yes	No	No	No	No	No	No	No	Yes	No	Yes	No	No	Yes/No
Renal disease	Yes (DDD)	No	Yes (IgAN)	No	No	No	No	No	Yes (C3GN)	No	No	No	No	Yes/No

Abbreviations: F female, M male, BMI Body Mass Index, HbA1c Glycohemoglobin, ALT Alanine aminotransferase, AST Aspartate aminotransferase; DDD Dense deposit disease, IgAN IgA nephropathy, C3GN C3 glomerulonephritis, N/A Not available
^a Percentage of total fat was measured using dual-energy x-ray absorptiometry
^b Liver steatosis was assessed by means of ultrasonography

ISSN: 1750-1172