Primary Intestinal Follicular Lymphoma and Premature Atherosclerosis in a Japanese Diabetic Patient with Atypical Familial Partial Lipodystrophy

Abstract

We experienced a case of primary intestinal follicular lymphoma and premature atherosclerosis in a diabetic patient with familial partial lipodystrophy (FPL) that was detected when the patient was evaluated for laparoscopic sleeve gastrectomy (LSG). As FPL is generally considered to be rare, FPL is often underdiagnosed, especially in obese patients. Therefore, the prevalence of FPL is higher than previous estimates. Our case illustrates that clinicians should perform screening for atherosclerosis and malignancy at the preoperative evaluation and may need to perform metabolic surgery earlier to prevent the development of excess truncal fat, complicated diabetes and atherosclerosis in patients with FPL.

Clinical Characteristics, Phenotype of Lipodystrophy and a Genetic Analysis of Six Diabetic Japanese Women with Familial Partial Lipodystrophy in a Diabetic Outpatient Clinic

“…Compared with normal subjects, the patient had markedly lowlevels of fat in her legs, with prominent accumulation of fat in the trunk. On DEXA, the fat mass of the lower limbs in this patient was 3.9 kg, whereas this value was 1.7 kg in Patient 1, 2.3 kg in Patient 2, and 2.4 kg in Patient 3, as we reported previously ( 8 - 10 ). Thus, Patient 4 had reduced fat loss in the lower limbs compared with these three patients.…”

“…We examined the sequences of the entire coding region and exon-intron boundary regions of LMNA, PPARG, AKT2, and Caveolin-1 in Patient 1 and LMNA, PPARG, and Caveolin-1 in Patient 2. We found no mutations in these genes in these patients ( 9 , 10 ). Whole-exome sequencing in Patients 3, 4, 5, and 6 showed no mutations in candidate genes known to be associated with FPLD.…”

“…1 . The body fat distribution in Patients 1, 2, and 3 was described in a previous paper ( 8 - 10 ), while the values in Patients 4, 5, and 6 are shown in Figs. 2 - 4 , respectively.…”

“…We obtained written informed consent for genetic analyses from the patients subjected to genetic analyses. Sequence analyses of LMNA, PPARG, AKT2, and Caveolin-1 were performed using methods reported previously ( 8 - 10 ), and whole-exome sequencing was performed for Patients 3, 5, and 8 as reported previously ( 13 ).…”

“…We performed genetic analysis in 6 of 15 patients with PL identified in our diabetic outpatient clinic, including cases reported previously ( 8 - 10 ). We herein report the phenotype of lipodystrophy and clinical characteristics of these six patients.…”