Congenital generalized lipodystrophy in Taiwan

Rai Hseng Hsu, Wei De Lin, Mei Chyn Chao, Hui Pin Hsiao, Siew Lee Wong, Pao Chin Chiu, Shao Yin Chu, Yu Yuan Ke, Beng Huat Lau, Yin Hsiu Chien, Wuh Liang Hwu, Fuu Jen Tsai, Chung Hsing Wang, Ni Chung Lee

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. Methods: Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. Results: A total of 16 patients were analyzed, and the current median age was 3.5 years (range, 9 months-17.5 years). In all patients, molecular results confirmed BSCL2 mutation. c.782dupG (p.Ile262Hisfs*12) was the most common genotype identified. All patients had triangular faces and muscular hypertrophy. In addition, 75% presented with hepatomegaly, 19% had cardiomegaly, and 44% exhibited acanthosis nigricans. Developmental delay was noted in 5 out of 9 patients (56%) with a median developmental quotient (DQ)/intelligence quotient (IQ) of 61. Thirteen patients (81.3%) had high triglyceride levels. Eight patients received leptin analysis, and 7 of them (88%) had low leptin levels. One patient exclusively received a lipid-lowering drug, 4 patients were exclusively placed on a fat-restricted diet, 5 patients were administered combination therapy, and 5 patients received no treatment. Three patients (19%) who developed diabetes mellitus received both oral hypoglycemic agents and insulin. Three patients (19%) experienced loss of ambulation and died prematurely. Conclusion: Our findings highlight the uniqueness of the genotype and phenotype in our cohort. Further long-term surveillance for comorbidities is necessary for early detection and management of these patients.

Original languageEnglish
Pages (from-to)142-147
Number of pages6
JournalJournal of the Formosan Medical Association
Issue number1P1
Publication statusPublished - Jan 2019


  • Congenital generalized lipodystrophy
  • Morbidity
  • Outcome

ASJC Scopus subject areas

  • Medicine(all)


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