OC05 - The clinical risk scores for Cushing’s Syndrome overlap with the phenotype of partial lipodystrophies

Introduction Partial lipodystrophies (PLD) frequently overlap with Cushing syndrome (CS) phenotype. Although clinical models have recently been proposed to estimate the pre-test probability of CS, it has not yet been investigated whether such tools can discriminate between CS and other overlapping conditions. Methods We conducted a retrospective study including patients with either acquired (APL) or familial PLD (FPLD) followed at a referral center. To determine the pre-test probability of hypercortisolism, the Cushing score was calculated considering main clinical predictors of CS (age <59 years, facial fullness, facial plethora, proximal muscle atrophy, dorsocervical fat pad, hirsutism and/or seborrhoea, non-obesity, hypertension, diabetes, osteopenia/osteoporosis). Both the distribution of Cushing score values and patient stratification according to score risk classes were analyzed. Urinary free cortisol (UFC) and serum cortisol after 1 mg dexamethasone suppression test (DST) were also evaluated. Results The study included 30 adult patients (26 females, 4 males; mean age ± standard deviation 52±12 years) with PLD (26 FPLD, 4 APL). 25 patients (83%) had at least one clinical feature suggestive of CS, the most common being facial fullness and dorsocervical fat pad. 20 patients (67%) were classified as overweight or obese with BMI 29.4±6.2 kg/m2. 21 patients (70%) had hypertension, while 29 (97%) had type 2 diabetes under treatment (insulin and/or antidiabetic drugs) with HbA1c 8.2 ± 2.1%. The Cushing score value was 8.0 ± 2.3 SD. 83% of patients had a score > 6, while almost half (47%) had a score ≥ 9. Risk class stratification revealed that 40% of patients fell into the intermediate-high risk (score 9-11.5), 43% into the intermediate-low risk (score 6-8.5), and only 17% into the low-risk (score 0-5.5) class. Mean UFC values were 25 ± 17 ug/24h (range 3.5-45) and all subjects had normal serum cortisol after overnight 1mg DST. Conclusion Patients with PLD often exhibit clinical features suggestive of hypercortisolism. Although easy-to-apply risk scoring system for CS may be useful to detect high-risk patients, they may not accurately distinguish between CS and other overlapping phenotypes as PLD. Raising awareness of lipodystrophies clinical presentation may contribute to a more frequent diagnosis of these underrecognized diseases.