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Table 1 Clinical and biochemical features of atypical lipodystrophy patients with CAV1 mutations

From: Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Attribute Patient A Patient B Patient C
Ancestry Northern Europe Northern Europe Northern Europe
CAV1 mutation name I134fsdelA-X137 I134fsdelA-X137 -88delC
age at assessment (years) 28 55 35
sex female male male
lipodystrophy onset birth birth adulthood
BMI (kg/m2) 25.0 24.5 25.6
waist circumference (cm) 86 88 92
Subcutaneous fat changes:    
   face decrease decrease increase
   arms decrease decrease decrease
   gluteal region increase increase decrease
   thighs increase increase decrease
   calves increase increase decrease
   visceral increase increase increase
age of diabetes onset (years) none 30 33
hypertension and age of onset none none 33
hyperlipoproteinemia type 5 type 4 type 5
pancreatitis recurrent no recurrent
highest historical plasma triglyceride 20.4 mmol/L 80 mmol/L 16.5 mmol/L
acanthosis nigricans present absent present
congenital cataracts bilateral bilateral absent
atypical retinitis pigmentosa bilateral bilateral absent
tinnitus moderate absent absent
nystagmus severe absent absent
spastic ataxia severe mild absent
dysdiadochokinesia severe mild absent
muscle power in lower limbs diminished (4/5) normal normal
sensory glove/stocking neuropathy severe mild absent
Babinski sign bilateral absent absent
finger past-pointing severe absent absent
other comments wheel-chair bound since age 20; similarly affected paternal aunt (deceased) Patient A's father; legally blind requires 120 U of insulin daily