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| Disease found: | Familial Partial Lipodystrophy |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare genetic disorder characterized by selective, progressive loss of body fat (adipose tissue) from various areas of the body. [more info] |
| Signs and Symptoms: | Hyperpigmentation, hyperheratosis, diabetes, loss of fat, cirrhosis, pancreatitis, failure of the ovary to release eggs, and mild hirsutism [more info] |
| Diagnosis: | Magnetic resonance imaging (MRI) and molecular genetic testing [more info]. |
| Treatment: | Metformin and anti-hypertensive durgs [more info] |
| Clinical Management: | Medication management and supportive therapy [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Various clinical trails still recruiting |