ABSTRACT
Familial partial lipodystrophy (FPL) type 1 is a syndrome characterized by loss of subcutaneous fat in arms and legs and an excess of body fat in face, neck, and torso. This rare syndrome is usually diagnosed when patients present cardiovascular complications or pancreatitis due to the severe metabolic abnormalities. Here we present the case of a 45 year old diabetic female without any pathological family history, a poor glycemic control (HbA1c 11.7%), hypertriglideridemia (3000 mg/dl), a body mass index (BMI) of 38, thin limbs, subcutaneous fat loss in gluteal area and ledge of fat above them, prominent veins in lower extremities, moon face, and acanthosis nigricans; as well as hypertension (150/100 mmHg) and subcutaneous folds measuring less than average were observed. Hypercortisolism was discarded and leptin levels were measured (16.8 mg/ml, VR: BMI > 30: 50 mg/ml). Due to these clinical and biochemical manifestations, and low leptin levels (16.8 mg/ml), Kobberling syndrome was suspected; however, LMNA mutation analysis was negative. Changes in lifestyle and treatment with fenofibrate, biphasic insulin 50/50, and enalapril were initiated showing a a significant metabolic improvement: HbA1c (7.8%) and TG (243 mg/dl). FPL type 1 is a familial disease, although there are spontaneous cases. No specific mutation is responsible for this syndrome. Due to its clinical manifestations, Cushing syndrome must be discarded.
Subject(s)
Lipodystrophy, Familial Partial/diagnosis , Subcutaneous Fat/pathology , Acanthosis Nigricans/complications , Arm , Buttocks , Diagnosis, Differential , Female , Humans , Lipodystrophy, Familial Partial/complications , Middle Aged , Rare Diseases/complications , Rare Diseases/diagnosisABSTRACT
La lipodistrofia parcial familiar de tipo1 (LPF 1) es un síndrome caracterizado por la pérdida parcial de grasa subcutánea en extremidades con distribución incrementada de la misma en rostro, cuello y tronco. Es una identidad familiar aunque hay casos espontáneos. Hasta ahora no se conoce mutación responsable. Se debe realizar diagnóstico diferencial con el síndrome de Cushing. Es un síndrome poco frecuente y en oportunidades se llega al diagnóstico cuando los pacientes presentan complicaciones cardiovasculares o afectación pancreática como consecuencia de una grave alteración metabólica. Se presenta el caso de una paciente de 45 años con diabetes mellitus desde los 20 años de edad, mal control glucémico (HbA1c: 11.7%) e hipertrigliceridemia (TG: 3000 mg/dl), índice de masa corporal (IMC): 38, extremidades adelgazadas, pérdida de grasa subcutánea en glúteos, sobreelevación de pliegue por encima de los mismos, venas prominentes en miembros inferiores, cara de luna llena y marcada acantosis nigricans, hipertensión (TA: 150/100 mm Hg) y medidas de pliegues subcutáneos disminuidos. El dosaje de leptina fue 16.8 mg/ml. El estudio genético para gen LMNA fue negativo. Se instauraron medidas de cambio de estilo de vida, tratamiento con fenofibrato, insulina premezcla 50/50 y enalapril, obteniéndose una franca mejoría clínica, de la HbA1c (7.8%) y de los TG (243 mg/dl).
Familial partial lipodystrophy (FPL) type 1 is a syndrome characterized by loss of subcutaneous fat in arms and legs and an excess of body fat in face, neck, and torso. This rare syndrome is usually diagnosed when patients present cardiovascular complications or pancreatitis due to the severe metabolic abnormalities. Here we present the case of a 45 year old diabetic female without any pathological family history, a poor glycemic control (HbA1c 11.7%), hypertriglideridemia (3000 mg/dl), a body mass index (BMI) of 38, thin limbs, subcutaneous fat loss in gluteal area and ledge of fat above them, prominent veins in lower extremities, moon face, and acanthosis nigricans; as well as hypertension (150/100 mmHg) and subcutaneous folds measuring less than average were observed. Hypercortisolism was discarded and leptin levels were measured (16.8 mg/ml, VR: BMI > 30: 50 mg/ml). Due to these clinical and biochemical manifestations, and low leptin levels (16.8 mg/ml), Kobberling syndrome was suspected; however, LMNA mutation analysis was negative. Changes in lifestyle and treatment with fenofibrate, biphasic insulin 50/50, and enalapril were initiated showing a a significant metabolic improvement: HbA1c (7.8%) and TG (243 mg/dl). FPL type 1 is a familial disease, although there are spontaneous cases. No specific mutation is responsible for this syndrome. Due to its clinical manifestations, Cushing syndrome must be discarded.
Subject(s)
Female , Humans , Middle Aged , Lipodystrophy, Familial Partial/diagnosis , Subcutaneous Fat/pathology , Arm , Acanthosis Nigricans/complications , Buttocks , Diagnosis, Differential , Lipodystrophy, Familial Partial/complications , Rare Diseases/complications , Rare Diseases/diagnosisABSTRACT
Dunnigan-type familial partial lipodystrophy (FPLD) is an autosomal dominant disease that results from heterozygous missense mutations in LMNA, the gene that encodes nuclear lamin A/C. FPLD is characterized by a progressive disappearance of subcutaneous adipose tissue in the limbs, gluteal region, abdomen and trunk, beginning at the time of or after puberty, and excessive amount of fat in the face, chin, labia majora, and intra-abdominal region, leading to a Cushingoid appearance and increased muscularity phenotype. Affected women are particularly predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. To emphasize the importance of an early FPLD diagnosis, which is necessary to prevent serious metabolic disturbances, we report a woman diagnosed at about 50 years of age. Increased muscularity and significant labia majora fat deposit made the diagnosis possible by gynecologists.