Living with Autosomal semi-dominant severe lipodystrophic laminopathy
A rare genetic condition with loss of body fat in the limbs and trunk, extra fat in the face and neck, and diabetes.
Understanding Autosomal semi-dominant severe lipodystrophic laminopathy
There is severe loss of fat in the arms, legs, trunk, and belly, with fat building up in the face and neck. It can also cause diabetes, darkened skin folds, fatty liver, and high triglycerides. Leptin and adiponectin levels are low. Serious heart rhythm and conduction problems have been reported. Onset is listed as adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of healthy fat tissue (lipodystrophy)
- Extra fat in the face and neck
- Body does not respond well to insulin
- Diabetes
- Darkened, thickened skin (acanthosis nigricans)
- Enlarged liver
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in LMNA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Lipodystrophy United and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the LMNA gene.
Patient organizations
- Lipodystrophy UnitedAutosomal semi-dominant severe lipodystrophic laminopathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal semi-dominant severe lipodystrophic laminopathy.
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