Early Course of Berardinelli-Seip Congenital Lipodystrophy (BSCL)

Eltermann, T.; Menendez-Castro, Carlos; Kienzle, H.-P.; Wössner, R.; Thomas, William I.

doi:10.1055/s-0030-1248282

Cited by 1 publication

(3 citation statements)

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“…Additionally, a CGL case series involving a subgroup of seven patients from Oman aged between 0 and 4 years, reported that all patients had hepatomegaly, with splenomegaly (67%), acanthosis nigricans (67%), acromegaloid features (67%) and hypertriglyceridemia (71%) also detected [ 23 ]. Results from the MENA cohort and other studies therefore suggest that metabolic and organ system abnormalities in CGL can develop around the time of onset of fat loss and may be detectable during infancy [ 23 , 48 – 51 ].…”

Section: Discussionmentioning

confidence: 98%

“…Of the patients who were diagnosed at or before 1 year of age, 44% and 33% presented with acromegaloid features and acanthosis nigricans, respectively, 77% had at least one organ abnormality, 23% had HbA1c > 6.5% and 24% had triglycerides > 5.65 mmol/L. The development of the organ system and metabolic complications during early childhood has been documented in several CGL cases studies [ 23 , 48 – 51 ]. For example, Eltermann et al (2010) reported severe metabolic complications including elevated AST (104 IU/L), ALT (203 IU/L), GGT (508 IU/L), and triglycerides of 23.7 mmol/L (= 2100 mg/dL) in a 3-week-old patient with CGL2 of Turkish origin [ 51 ].…”

Section: Discussionmentioning

confidence: 99%

“…The development of the organ system and metabolic complications during early childhood has been documented in several CGL cases studies [ 23 , 48 – 51 ]. For example, Eltermann et al (2010) reported severe metabolic complications including elevated AST (104 IU/L), ALT (203 IU/L), GGT (508 IU/L), and triglycerides of 23.7 mmol/L (= 2100 mg/dL) in a 3-week-old patient with CGL2 of Turkish origin [ 51 ]. Additionally, a CGL case series involving a subgroup of seven patients from Oman aged between 0 and 4 years, reported that all patients had hepatomegaly, with splenomegaly (67%), acanthosis nigricans (67%), acromegaloid features (67%) and hypertriglyceridemia (71%) also detected [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

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Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa

Al Yaarubi,

Alsagheir,

Al Shidhani

et al. 2024

Orphanet J Rare Dis

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Background Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment. Methods CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity. Data were obtained at the time of patient diagnosis and during leptin-replacement naïve follow-up visits as permitted by available medical records. Results Data from 43 patients with CGL (37 females, 86%) were collected from centers located in eight countries. The mean (median, range) age at diagnosis was 5.1 (1.0, at birth–37) years. Genetic analysis of the overall cohort showed that CGL1 (n = 14, 33%) and CGL2 (n = 18, 42%) were the predominant CGL subtypes followed by CGL4 (n = 10, 23%); a genetic diagnosis was unavailable for one patient (2%). There was a high prevalence of parental consanguinity (93%) and family history (67%) of lipodystrophy, with 64% (n = 25/39) and 51% (n = 20/39) of patients presenting with acromegaloid features and acanthosis nigricans, respectively. Eighty-one percent (n = 35/43) of patients had at least one organ abnormality; the most frequently affected organs were the liver (70%, n = 30/43), the cardiovascular system (37%, n = 16/43) and the spleen (33%, n = 14/43). Thirteen out of 28 (46%) patients had HbA1c > 5.7% and 20/33 (61%) had triglyceride levels > 2.26 mmol/L (200 mg/dl). Generally, patients diagnosed in adolescence or later had a greater severity of metabolic disease versus those diagnosed during childhood; however, metabolic and organ system abnormalities were observed in a subset of patients diagnosed before or at 1 year of age. Conclusions This analysis suggests that in addition to the early onset of fat loss, family history and high consanguinity enable the identification of young patients with CGL in the MENA region. In patients with CGL who have not received lipodystrophy-specific treatment, severe metabolic disease and organ abnormalities can develop by late childhood and worsen with age.

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