Congenital generalized lipodystrophy

Información en español Title

Other Names:

Brunzell syndrome; BSCL; GCL; Brunzell syndrome; BSCL; GCL; Lipoatrophic diabetes; Berardinelli-Seip syndrome; Beradinelli-Seip syndrome; Generalized congenital lipodystrophy; Berardinelli-Seip congenital lipodystrophy See More

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases

Subtypes:

Congenital generalized lipodystrophy type 1; Congenital generalized lipodystrophy type 2; Congenital generalized lipodystrophy type 3; Congenital generalized lipodystrophy type 1; Congenital generalized lipodystrophy type 2; Congenital generalized lipodystrophy type 3; Congenital generalized lipodystrophy type 4 See More

Summary Summary

Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat (adipose tissue) in the body. It is part of a group of diseases known as lipodystrophies. Signs and symptoms are noticed from birth (congenital) or early childhood and include high levels of fats (triglycerides) in the blood (hypertriglyceridemia) and insulin resistance (in which the body tissues are unable to respond to the hormone insulin that helps to regulate blood sugar levels) resulting in diabetes mellitus, abnormal accumulation of fat in the liver (liver steatosis) and the accumulation of fat in the heart causing a thickening of the heart muscle (hypertrophic cardiomyopathy), which can lead to a heart that does not work well (heart failure) and sudden death. Due to the almost total absence of fatty tissue and excessive growth of muscle tissue, the patients appear very muscular and have visible and prominent veins. They also have dark and thick skin in the body folds (acanthosis nigricans).^[1]^[2]

There are 4 types of the disease that are distinguished by the altered (mutated) genes and by some additional characteristic symptoms. People with type 1, caused by mutations in the AGPAT2 gene, may have cysts in the long bones of the arms and the legs after puberty. In type 2, which is caused by mutations in the BSCL2 gene, there may be intellectual disability. In type 3, caused by mutations in the CAV1 gene, affected people may have short stature and growth delay. Type 4, caused by mutations in the CAVIN1 gene, is associated with muscle weakness, developmental delay, joint anomalies, narrowing of the lower part of the stomach (pyloric stenosis), and severe heart arrhythmia that can lead to sudden death.^[3]^[1]^[2]

The inheritance of Berardinelli-Seip congenital lipodystrophy is autosomal recessive.^[1] Treatment consists on a fat restricted diet and diabetes control, and may also include leptin administration.^[3]^[2]

Last updated: 10/16/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Accelerated skeletal maturation	Advanced bone age Early bone maturation [ more ]	0005616
Broad foot	Broad feet Wide foot [ more ]	0001769
Hepatomegaly	Enlarged liver	0002240
Hyperinsulinemia		0000842
Hypertriglyceridemia	Increased plasma triglycerides Increased serum triglycerides Increased triglycerides [ more ]	0002155
Insulin resistance	Body fails to respond to insulin	0000855
Large hands	large hand	0001176
Lipoatrophy	Loss of fat tissue in localized area	0100578
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Prominent supraorbital ridges	Prominent brow	0000336
Skeletal muscle hypertrophy	Increased skeletal muscle cells	0003712
30%-79% of people have these symptoms
Abnormal circulating creatine kinase concentration	Abnormal levels of creatine kinase in blood	0040081
Abnormality of skin pigmentation	Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly [ more ]	0001000
Atherosclerosis	Narrowing and hardening of arteries	0002621
Bone cyst	Bone cysts	0012062
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Elevated hepatic transaminase	High liver enzymes	0002910
Exercise-induced myalgia	Exercise-induced muscle pain Muscle pain on exercise Muscle pain with exercise Muscle pain, exercise-induced [ more ]	0003738
Flexion contracture	Flexed joint that cannot be straightened	0001371
Generalized hirsutism	Excessive hairiness over body	0002230
Growth hormone excess		0000845
Hepatic failure	Liver failure	0001399
Hyperhidrosis	Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ]	0000975
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Loss of subcutaneous adipose tissue in limbs	Loss of fat tissue below the skin in limbs	0003635
Muscle stiffness		0003552
Myopathy	Muscle tissue disease	0003198
Palpitations	Missed heart beat Skipped heart beat [ more ]	0001962
Precocious puberty	Early onset of puberty Early puberty [ more ]	0000826
Progressive proximal muscle weakness		0009073
Prolonged QTc interval		0005184
5%-29% of people have these symptoms
Abnormal oral cavity morphology	Abnormality of the oral cavity	0000163
Abnormality of skeletal muscle fiber size		0012084
Acanthosis nigricans	Darkened and thickened skin	0000956
Arterial stenosis	Narrowing of an artery	0100545
Atlantoaxial dislocation		0003414
Atrial fibrillation	Quivering upper heart chambers resulting in irregular heartbeat	0005110
Bradycardia	Slow heartbeats	0001662
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Diabetes mellitus		0000819
Dysmenorrhea	Painful menstruation	0100607
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Glomerulopathy		0100820
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hyperlordosis	Prominent swayback	0003307
Immunodeficiency	Decreased immune function	0002721
Myocardial infarction	Heart attack	0001658
Nephropathy		0000112
Oligomenorrhea	Light or infrequent menstrual periods	0000876
Osteopenia		0000938
Osteoporosis		0000939
Pancreatitis	Pancreatic inflammation	0001733
Peripheral neuropathy		0009830
Polycystic ovaries		0000147
Pulmonary arterial hypertension	Increased blood pressure in blood vessels of lungs	0002092
Pyloric stenosis		0002021
Recurrent fractures	Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ]	0002757
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Scoliosis		0002650
Secondary amenorrhea	Previous menstrual periods stop	0000869
Spinal rigidity	Reduced spine movement	0003306
Splenomegaly	Increased spleen size	0001744
Ventricular hypertrophy		0001714
Ventriculomegaly		0002119
1%-4% of people have these symptoms
Decreased circulating IgA level		0002720
Growth hormone deficiency		0000824

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Last updated: 8/1/2020

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Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include laminopathies and Parry-Romberg syndrome (see these terms). Visit the Orphanet disease page for more information.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Parent and Caregiver Resources

In this NCATS Video Profile, Rachel Daniels describes what life is like for her daughter with congenital generalized lipodystrophy.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Congenital generalized lipodystrophy in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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References References

Berardinelli-Seip. Genetics Home Reference. 2016; http://ghr.nlm.nih.gov/condition/berardinelli-seip-congenital-lipodystrophy.
Maldergem LV. Berardinelli-Seip Congenital Lipodystrophy. GeneReviews. 2016; http://www.ncbi.nlm.nih.gov/books/NBK1212/.
Monajemi H, Stroes E, Hegele RA, and Fliers E. Inherited Lipodystrophies and the Metabolic Syndrome. Clin Endocrinol. 2007; 67(4):479-484. http://www.medscape.com/viewarticle/564557_3.

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