Familial partial lipodystrophy type Köbberling

Title

Other Names:

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

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases

This disease is grouped under:

Familial partial lipodystrophy

Summary 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]

Last updated: 10/20/2016

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
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

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Last updated: 7/1/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

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

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.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
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May 21, 2020

GARD Answers GARD Answers

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I am diagnosed with familial partial lipodystrophy type Köbberling, but the medication is not helping. I read about bypass gastric surgery for morbid obesity and I wonder is it will be a good treatment for me. See answer

Have a question? Contact a GARD Information Specialist.

References References

Familial Partial Lipodystrophy. NORD. 2015; https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/.
Mantzoros C. Lipodystrophic syndromes. UpToDate. July 27, 2015; http://www.uptodate.com/contents/lipodystrophic-syndromes.
Guillín-Amarelle C. Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome. Endocrine. July 30, 2016; https://www.ncbi.nlm.nih.gov/pubmed/27473102.
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/.