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Disease Profile

Familial partial lipodystrophy type 2

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.

Unknown

Age of onset

Elderly

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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

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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

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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.

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

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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.

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Not applicable

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Other names (AKA)

FPLD2; Lipodystrophy, familial partial, Dunnigan type; Lipodystrophy, familial, of limbs and lower trunk;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders;

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]

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
Hepatomegaly
Enlarged liver
0002240
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides

[ more ]

0002155
Insulin resistance
Body fails to respond to insulin
0000855
Lipoatrophy
Loss of fat tissue in localized area
0100578
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Skeletal muscle hypertrophy
Increased skeletal muscle cells
0003712
Xanthomatosis
Yellow bumps of fatty deposits on skin
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
Previous menstrual periods stop
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
Excessive hairiness over body
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
Narrowing and hardening of arteries
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
Excessive hairiness
0001007
Hypercholesterolemia
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol

[ more ]

0003124
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
Inability to make and keep healthy fat tissue
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

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

    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]

    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.

      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

        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

              References

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

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