Familial partial lipodystrophy type 2

Title

Other Names:

FPLD2; Lipodystrophy, familial partial, Dunnigan type; Lipodystrophy, familial, of limbs and lower trunk; FPLD2; Lipodystrophy, familial partial, Dunnigan type; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; Lipoatrophic diabetes; FPL2; Lipodystrophy, familial partial, type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type See More

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders; Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders; Skin Diseases See More

This disease is grouped under:

Familial partial lipodystrophy

Summary Summary

Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood.^[1] FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose tissue in the face, neck, and upper back.^[1]^[2]^[3]^[4] It may also cause increased musculature.^[2] Some people with FPLD2 have areas of dark, thick skin (acanthosis nigricans), and females may have excessive hairiness (hirsutism) and menstrual abnormalities.^[1] Metabolic abnormalities develop in adolescence or adulthood, leading to signs and symptoms that may include insulin resistance, dyslipidemia, diabetes, pancreatitis (or recurrent acute pancreatitis), liver steatosis, atherosclerosis, and an increased risk of heart disease.^[2]^[3]

FPLD2 is caused by mutations in the LMNA gene and inheritance is autosomal dominant.^[2]^[3]^[4] Treatment aims to correct metabolic abnormalities and manage complications. This may involve medications, monitoring the diet, and exercise.^[2] Plastic surgery may be considered by some individuals.^[2] People with FPL2 are encouraged to seek counseling and support after being diagnosed, as the disorder can cause anxiety and psychological distress.^[3] The long-term health outlook generally depends on the severity of complications such as diabetes, pancreatitis, and heart disease.^[2]

Last updated: 10/16/2018

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
Hepatomegaly	Enlarged liver	0002240
Hypertriglyceridemia	Increased plasma triglycerides Increased serum triglycerides Increased triglycerides [ more ]	0002155
Insulin resistance		0000855
Lipoatrophy		0100578
Round face	Circular face Round facial appearance Round facial shape [ more ]	0000311
Skeletal muscle hypertrophy	Increased skeletal muscle cells	0003712
Xanthomatosis		0000991
30%-79% of people have these symptoms
Abnormality of the nail		0001597
Acute pancreatitis	Acute pancreatic inflammation	0001735
Advanced eruption of teeth	Early eruption of teeth	0006288
Loss of subcutaneous adipose tissue in limbs	Loss of fat tissue below the skin in limbs	0003635
Secondary amenorrhea		0000869
Thin skin		0000963
5%-29% of people have these symptoms
Abnormality of complement system		0005339
Abnormality of skeletal muscle fiber size		0012084
Acanthosis nigricans	Darkened and thickened skin	0000956
Cellulitis	Bacterial infection of skin Skin infection [ more ]	0100658
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Coronary artery atherosclerosis	Plaque build-up in arteries supplying blood to heart	0001677
Cranial nerve paralysis		0006824
Dysmenorrhea	Painful menstruation	0100607
Eclampsia		0100601
Generalized hirsutism		0002230
Glomerulopathy		0100820
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Myopathy	Muscle tissue disease	0003198
Pancreatitis	Pancreatic inflammation	0001733
Polycystic ovaries		0000147
Splenomegaly	Increased spleen size	0001744
Percent of people who have these symptoms is not available through HPO
Adipose tissue loss	Loss of fat tissue	0008887
Atherosclerosis		0002621
Autosomal dominant inheritance		0000006
Decreased HDL cholesterol concentration	Decreased circulating high-density lipoprotein cholesterol Decreased HDL cholesterol Low HDL-cholesterol [ more ]	0003233
Enlarged peripheral nerve		0012645
Hirsutism		0001007
Hyperglycemia	High blood sugar	0003074
Hyperinsulinemia		0000842
Hypertension		0000822
Increased adipose tissue around the neck	Increased fat around the neck	0000468
Increased facial adipose tissue	Increased amount of facial fat	0000287
Increased intraabdominal fat		0008993
Increased intramuscular fat		0008985
Insulin-resistant diabetes mellitus	Insulin resistant diabetes Insulin-resistant diabetes [ more ]	0000831
Labial pseudohypertrophy		0008739
Lipodystrophy		0009125
Loss of truncal subcutaneous adipose tissue	Loss of fat tissue in trunk	0009002
Prominent superficial veins	Prominent veins	0001015
Reduced subcutaneous adipose tissue	Reduced fat tissue below the skin	0003758

Showing of 51 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Individuals with familial partial lipodystrophy type 2 may require the coordinated efforts of a team of specialists, including a primary care provider, cardiologist, endocrinologist, nutritionist, plastic surgeon, and psychiatrist/psychologist.^[3] Dietary modifications and daily physical activity can help improve the metabolic complications of lipodystrophy. Insulin sensitizers (such as metformin) and lipid-lowering drugs (statins, fibrates) may also be helpful. Due to the risk of cardiac complications, individuals with familial partial lipodystrophy type 2 should have regular cardiac check-ups. Metreleptin has shown some promise as a treatment for this condition, however, it is not widely approved for treatment at this time.^[3]^[2] The characteristic fat distribution seen in individuals with familial partial lipodystrophy type 2 cannot be reversed. For some individuals, cosmetic surgery may be beneficial in improving appearance and for management of metabolic complications. Liposuction may also be used to remove unwanted deposits of fat. Because familial partial lipodystrophy type 2 can cause anxiety and stress, psychological support is also an important part of treatment.^[3]

Last updated: 7/3/2016

Management Guidelines

The NORD Physician Guide for Familial partial lipodystrophy type 2 was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

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.

American Dietetic Association
120 South Riverside Plaza, Suite 2000
Chicago, IL 60606-6995
Toll-free: 800-366-1655
E-mail: knowledge@eatright.org
Website: http://www.eatright.org/Public/

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 other forms of FLPD as well as Cushing syndrome (see these terms), type 2 diabetes, metabolic syndrome and acquired lipodystrophy. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Familial partial lipodystrophy type 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Lipodystrophy United
22 Frances Road
Los Lunas, NM 87031
Telephone: 209.845.RARE
E-mail: info@lipodystrophyunited.org
Website: http://www.lipodystrophyunited.org/
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org

Do you know of an organization? We want to hear from you.

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.

Where to Start

Genetics Home Reference (GHR) contains information on Familial partial lipodystrophy type 2. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.
PubMed is a searchable database of medical literature and lists journal articles that discuss Familial partial lipodystrophy type 2. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Krawiec P, Melges B, Pac-Kozuchowska E, Mroczkowska-Juchkiewicz A, Czerska K. Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. BMC Pediatr. 2016 Mar 14; 16:38.
Belo SP, Magalhaes AC, Freitas P, Carvalho DM. Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. BMC Res Notes. 2015 Apr 11; 8:140.
Vadrot N, Duband-Goulet I, Cabet E, Attanda W, Barateau A, Vicart P, Gerbal F, Briand N, Vigouroux C, Oldenburg AR, Lund EG, Collas P, Buendina B. The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2015 Apr 1; 24(7):2096-109.
Diker-Cohen T, Cochran E, Gorden P, Brown RJ. Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. J Clin Endocrinol Metab. 2015 May; 100(5):1802-10.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Is metreleptin a treatment option for individuals with familial partial lipodystrophy type 2? See answer

Have a question? Contact a GARD Information Specialist.

References References

Mantzoros C. Lipodystrophic syndromes. UpToDate. Waltham, MA: UpToDate; September 14, 2017; https://www.uptodate.com/contents/lipodystrophic-syndromes.
Vigouroux C. Familial partial lipodystrophy, Dunnigan type. Orphanet. February 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348.
Garg A. Familial Partial Lipodystrophy. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/.
LMNA. Genetics Home Reference (GHR). August 2013; https://ghr.nlm.nih.gov/gene/LMNA.