Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges

Chiquette, Elaine; Oral, Elif A.; Garg, Abhimanyu; Araújo‐Vilar, David; Dhankhar, Praveen

doi:10.2147/dmso.s130810

Cited by 91 publications

(62 citation statements)

References 18 publications

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“…Our model that one-point prevalence can represent a RD is an overgeneralization. In addition, the complex nature of RDs may lead to variation in epidemiological estimates, for example by the lack of diagnostic consensus for many RDs [41]. Late onset, reduced penetrance, under-recognition, and variable presentations of some RDs, as well as the lack of population screening tools for many RDs, can affect the recorded point prevalence [42].…”

Section: Discussionmentioning

confidence: 99%

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

et al. 2019

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Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the 'Orphanet Epidemiological file' (http://www.orphadata.org/cgi-bin/epidemio.html). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of <1/1 000 000. However 77.3-80.7% of the population burden of rare diseases is attributable to the 4.2% (n = 149) diseases in the most common prevalence range (1-5 per 10 000). Consequently national definitions of 'Rare Diseases' (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. Our analysis yields a conservative, evidence-based estimate for the population prevalence of rare diseases of 3.5-5.9%, which equates to 263-446 million persons affected globally at any point in time. This figure is derived from data from 67.6% of the prevalent rare diseases; using the European definition of 5 per 10 000; and excluding rare cancers, infectious diseases, and poisonings. Future registry research and the implementation of rare disease codification in healthcare systems will further refine the estimates.

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Section: Discussionmentioning

confidence: 99%

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

et al. 2019

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“…The prevalence of CGL is uncertain, but it has been estimated at approximately 1:10 million (8). A recent study reported an estimated prevalence of 0.23 cases/million for diagnosed GL (9). However, CGL has a higher prevalence in certain parts of the world as a result of consanguineous marriages.…”

Section: Congenital Generalized Lipodystrophymentioning

confidence: 99%

“…FPLD is a subtype of lipodystrophy with a genetic background, which in adults is more common than any other subtype of lipodystrophy (4,8,9,29). FPLD exhibits a typical fat tissue distribution.…”

Section: Familial Partial Lipodystrophymentioning

confidence: 99%

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

Özen

Akıncı

Oral

2020

Jcrpe

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Lipodystrophy is a heterogeneous group of disorders characterized by lack of body fat in characteristic patterns, which can be genetic or acquired. Lipodystrophy is associated with insulin resistance that can develop in childhood and adolescence, and usually leads to severe metabolic complications. Diabetes mellitus, hypertriglyceridemia, and hepatic steatosis ordinarily develop in these patients, and most girls suffer from menstrual abnormalities. Severe complications develop at a relatively young age, which include episodes of acute pancreatitis, renal failure, cirrhosis, and complex cardiovascular diseases, and all of these are associated with serious morbidity. Treatment of lipodystrophy consists of medical nutritional therapy, exercise, and the use of anti-hyperglycemic and lipid-lowering agents. New treatment modalities, such as metreleptin replacement, promise much in the treatment of metabolic abnormalities secondary to lipodystrophy. Current challenges in the management of lipodystrophy in children and adolescents include, but are not limited to: (1) establishing specialized centers with experience in providing care for lipodystrophy presenting in childhood and adolescence; (2) optimizing algorithms that can provide some guidance for the use of standard and novel therapies to ensure adequate metabolic control and to prevent complications; (3) educating patients and their parents about lipodystrophy management; (4) improving patient adherence to chronic therapies; (5) reducing barriers to access to novel treatments; and (5) improving the quality of life of these patients and their families.

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“…45,46 Lipodystrophies Lipodystrophies are uncommon, with a reported incidence of fewer than 5 cases per 1 million people. 57 Nevertheless, they are important to recognize because the diagnosis may affect the selection of glucose-lowering therapy.…”

Section: Medication-induced Diabetesmentioning

confidence: 99%

Type of diabetes mellitus: Does it matter to the clinician?

Hoogwerf

2020

CCJM

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Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges

Cited by 91 publications

References 18 publications

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

Type of diabetes mellitus: Does it matter to the clinician?

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