A Study of Physical and Metabolic Abnormalities in Patients with Lipodystrophy and Dyslipidemias and Their Relatives
This is a diagnostic not interventional study. The project varies with the subject. For subjects in whom we suspect no abnormalities [?] we may do as little as a history and physical exam [?] perhaps with skinfolds. Some subjects may just have fasting labs drawn and sent in via a kit. For an adult subject who appears to have lipodystrophy and comes to be evaluated here and has metabolic complications [?] that subject might have a history, physical, underwater weight, skinfolds, MRi, DeXa, insulin tolerance test or glucose tolerance test, urine testing, skin punch for fibroblasts, fasting labs perhaps on more than one occasion and calorimetry. Since the project varies so much by subject it is not possible to state clearly how many visits any subject will have or how long the visits will last or exactly what will be done at each visit. Visits done as outpatients are usually 30 to 90 minutes but potentially could be several hours if we were to do an oral glucose tolerance test with calorimetry and DeXa as part of the outpatient evaluation.Subjects sometimes will come to be evaluated just once, sometimes subjects return yearly or every few years or at the interval of their choosing.
The only outcome variables for this study are what type of lipodystrophy, related syndrome or fat abnormality does the subject have ( what is the diagnosis), and how severe are the metabolic effects [?] how severe is the hypertriglyceridemia, the insulin resistance or diabetes, how elevated are the liver triglycerides, how significant is the fat loss or excess. also important is do we already understand the etiology; if it is genetic can we identify the mutation [?] lamin etc., if it is acquired then the question is the mechanism.
1) A person with lipodystrophy or dyslipidemia.
2) Relatives of people with dyslipidemia or lipodystrophy.
4) Mutiple Symmetric lipomatosis
For the special sub-study:
a. FPLD Children
1. Age 8 -18 years
2. Carriers of LMNA mutations known to cause typical FPLD in the parent
3. Clinical features of FPLD (see below) in at least one other family member with same mutation
4. Preservation of sc fat over the thighs (anterior or medial thigh skinfold thickness > 10 mm) even if mild lipodystrophic changes are evident
b. Atypical or mild FPLD patients
1. Age 8-60 years
2. Carriers of disease-causing LMNA mutations
3. Clinical features of FPLD (normal fat distribution at birth, lack of sc fat from the extremities leading to muscular prominence with normal to increased fat over the face and neck, metabolic abnormalities related to insulin resistance)
4. Preservation of sc fat over the thighs (anterior or medial thigh skinfold thickness > 10 mm)