Rare Endocrinology News

Disease Profile

Familial partial lipodystrophy type Köbberling

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 >

US Estimated

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

E88.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

rnn-autosomaldominant.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Familial partial lipodystrophy type 1; FPLD1; Familial partial lipodystrophy, Köbberling type

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases

Summary

Familial partial lipodystrophy type Köbberling is a rare subtype of early-onset familial partial lipodystrophy (FPL), characterized by fat loss in the lower limbs and abnormal fat increase in other areas. The symptoms are similar to those seen in familial partial lipodystrophy, Dunnigan type (the most common type of FPL). However, only arms and legs have fat loss, and there is a normal or slightly increased fat distribution on the face, neck, and trunk, with excess of belly fat (central obesity).[1][2] Metabolic abnormalities including insulin resistance, high blood pressure (hypertension), and high levels of fat in the blood (hypertriglyceridemia) have also been reported. This form of FPL has only been reported in women. Inheritance seems to be autosomal dominant, but the exact cause is not known.[1][2][3][4] Treatment includes medication for the metabolic problems, diet and exercises, and in some cases, surgical procedures.[4]

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Diabetes mellitus
0000819
Hyperinsulinemia
0000842
Hypertension
0000822
Insulin resistance
Body fails to respond to insulin
0000855
Lipoatrophy
Loss of fat tissue in localized area
0100578
30%-79% of people have these symptoms
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Hepatomegaly
Enlarged liver
0002240
Polycystic ovaries
0000147
Xanthomatosis
Yellow bumps of fatty deposits on skin
0000991
5%-29% of people have these symptoms
Acanthosis nigricans
Darkened and thickened skin
0000956
Coronary artery atherosclerosis
Plaque build-up in arteries supplying blood to heart
0001677
Pancreatitis
Pancreatic inflammation
0001733
Percent of people who have these symptoms is not available through HPO
Abnormality of the musculature
Muscular abnormality
0003011
Acute pancreatitis
Acute pancreatic inflammation
0001735
Autosomal dominant inheritance
0000006
Hyperglycemia
High blood sugar
0003074
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides

[ more ]

0002155
Increased adipose tissue around the neck
Increased fat around the neck
0000468
Increased facial adipose tissue
Increased amount of facial fat
0000287
Increased subcutaneous truncal adipose tissue
Increased fat below the skin in trunk
0009003
Insulin-resistant diabetes mellitus
Insulin resistant diabetes
Insulin-resistant diabetes

[ more ]

0000831
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Loss of gluteal subcutaneous adipose tissue
Loss of fat tissue below the skin in gluts
0009017
Loss of subcutaneous adipose tissue in limbs
Loss of fat tissue below the skin in limbs
0003635
Prominent superficial veins
Prominent veins
0001015

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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has 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.

References

  1. Familial Partial Lipodystrophy. NORD. 2015; https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/.
  2. Mantzoros C. Lipodystrophic syndromes. UpToDate. July 27, 2015; https://www.uptodate.com/contents/lipodystrophic-syndromes.
  3. Guillín-Amarelle C. Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome. Endocrine. July 30, 2016; https://www.ncbi.nlm.nih.gov/pubmed/27473102.
  4. Handelsman Y & cols. The Clinical Apporach to the Detection of Lipodystrophy An AACE Consensus Statement. Endocrine practice?: official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 2013; 19(1):107-116. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4108221/.