A rare lipodystrophy syndrome with familial partial lipodystrophy 2 (FPLD2)

Abstract

Background: Lipodystrophy (LD) syndromes are a diverse group of ultra-rare diseases characterized by adipose tissue deficiency, resulting in potentially severe metabolic disturbances. Due to their scarcity, diagnosis and management are often challenging for clinicians. This study aimed to report a rare case of LD syndromes, as well their diagnosis and possible management. Case Presentation: A 27-year-old female presented to Dr. Soetomo General Academic Hospital, Surabaya, Indonesia with a chief complaint of abdominal (epigastric) pain, accompanied by diarrhea, nausea, and vomiting. The patient had a history of uncontrolled type-2 diabetes mellitus (T2DM), dyslipidemia, severe hypertriglyceridemia (HTG), diabetic retinopathy, and glaucoma. Physical examination indicated subcutaneous fat loss, especially from the extremities, and excessive fat accumulation in the face. Hepatosplenomegaly and ascites were detected, further confirmed through abdominal ultrasonography (USG). Laboratory investigations revealed hyperglycemia, dyslipidemia, severe HTG, and renal dysfunction. All of the assessment findings led to the diagnosis of LD syndrome with familial partial lipodystrophy 2 (FPLD2) (Dunnigan syndromes). Therapies included insulin injections and pioglitazone for the treatment of hyperglycemia, simvastatin and fenofibrate to reduce HTG, and some symptomatic drugs to reduce symptoms of the disease. Lifestyle modification (diet and exercise) was recommended to ameliorate metabolic derangements. Conclusion: There is currently no cure for LD syndrome. Treatment modalities are limited to preventing or reducing severe comorbidities of these syndromes. Increasing knowledge and awareness of the symptoms indicative of LD at an early onset is important.