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A woman in her 60s presented to the clinic with a previous diagnosis of familial partial lipodystrophy (FPLD) associated with a difficult-to-control type 2 diabetes mellitus. She had recent amputation of the left hallux and neuropathy, systemic arterial hypertension, cirrhosis due to nonalcoholic steatohepatitis, dyslipidaemia and stable angina pectoris associated with heart failure with preserved ejection fraction. Lipodystrophies are characterised by the reduction or loss of subcutaneous fat tissue, and they can be classified as localised, partial or generalised lipodystrophies according to the pattern of body fat distribution.1 2 When caused by genetic mutations, they are known as FPLD or congenital generalised lipodystrophy and these types of lipodystrophies are considered rare diseases.1 FPLD has autosomal dominant inheritance and can affect both males and females, but female patients are more easily recognised due to the more androgynous physical appearance and also are more severely affected by metabolic complications.1 3 Patients with FPLD can have a normal body fat distribution during childhood but around puberty they exhibit a progressive and changeable loss of subcutaneous fat. There is accumulation of subcutaneous fat in the dorsocervical region (also known as Buffalo Hump), in areas of the face, neck, inside the abdomen and suprapubic and perineal regions, like mons pubis hypertrophy, which is also known as ‘Dunnigan sign’ when surrounded by lipoatrophy.1 2 On the other hand, there is lipoatrophy or loss of fat in the gluteal region, upper and lower limbs, which denotes a similar aspect to Cushing’s syndrome1 (figure 1) making it challenging to identify and diagnose FLDP patients. This could potentially lead to underestimation of FPLD prevalence in the population. In addition to aesthetic problems that could affect self-esteem, patients with FPLD can develop serious metabolic complications.4 These complications make treatment and quality of life a challenge for both doctor and patient. Metabolic syndrome, insulin resistance, difficult-to-control diabetes and its complications, hypertriglyceridaemia, significant accumulation of abdominal fat1 2 4 (figure 2), kidney disease and atherosclerosis are among the most common complications, and that potentially leads to cardiovascular involvement and heart failure.2 4 Early diagnosis is crucial for implementation of appropriate therapy in order to prevent serious complications.
Familial partial lipodystrophy (FPLD) can affect both genders but is more easily observed in females, with more severe metabolic complications; FPLD shows androgen-like fat distribution, fat accumulation in the face, abdomen and dorsocervical region and pubic region, similar to Cushing’s syndrome phenotype, suggesting FPLD as a potential differential diagnose for this syndrome.
Visualisation of intra-abdominal and mons pubis fat accumulation on CT scans along with the absence of fat in the gluteal region and limbs, when associated with conditions such as difficult-to-control diabetes, dyslipidaemia, atherosclerotic cardiovascular disease and hepatic steatosis are highly suggestive of this rare genetic disorder, so further genetic investigation and counselling is recommended.
Early diagnosis allows better intervention and control of cardiovascular and metabolic parameters, with earlier implementation of lifestyle changes and clinical follow-up to increase the quality of life of the affected patients.
Patient consent for publication
Contributors RdJSU and MSC collected the data. RdJSU, MSC and VC interpreted the data, designed the article and wrote the manuscript and approved it for publication.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.