GL and PL – Current possibilities of treatment

Lipodystrophy is currently incurable; the loss of subcutaneous fatty tissue is irreversible.1 The essential aspect of treating patients is a targeted diet. However, it is difficult to break the vicious circle of existing hyperphagia caused by leptin deficiency, extreme subcutaneous fat deficiency, especially in children with GL, and deterioration of morbidity due to increased food intake.

The main causes of morbidity and mortality are2

Diabetes mellitus

Recurring acute pancreatitis due to extreme hypertriglyceridaemia

Liver cirrhosis on account of long-standing hepatic steatosis

Atherosclerosis

The main priority is to treat the metabolic effects of GL and PL.2

Pillars of the treatment of GL or PL are1,2

Dietary measures

Physical activity

Treatment of dyslipidemia (fibrates / plasmapheresis)

Treatment of hyperglycaemia (oral antidiabetics / insulin)

Cosmetic operations to improve appearance (especially when fat loss is causing psychological distress or physical discomfort).

Unmet Needs

In addition to dietary advice, drug treatment of complex metabolic disorders associated with lipodystrophy such as diabetes mellitus and hypertriglyceridaemia plays a crucial part. However, it provides limited clinical success4. There are several experts centers within European region that specialize in this rare disease and examine possibilities to address the underlying metabolic problems for patients with lipodystrophy and leptin deficiency.

What remains critical is early diagnosis in young patients. These patient‘s physical appearance and metabolic disorders means they have a significant loss of quality of life.3 The long and burdensome path towards diagnosis must be shortened and spare patients the early complications and serious consequences of their disease. Today, it takes some years after the onset of symptoms to diagnose patients.

Adolescent female with generalized lipodystrophy and typical complete lack of subcutaneous fat.

»My paediatrician was concerned because I had become so thin.
We then went to so many doctors - including geneticists, gastroenterologists, hepatologists and endo-crinologists. They determined that my blood sugar, triglycerides and liver enzymes were very high. The diagnosis was Type 1 diabetes.
But I was insulin-resistant. Finally we found out that it was not just diabetes but generalised lipodystrophy. At that moment my mother said that everything was now fitting together to form a picture like a puzzle.«

1 Brown et al., The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016; 101: 4500 – 4511.

2 K. Miehle K,  Stumvoll M, Fasshauer M. Lipodystrophie: Mechanismen, Klinik, Therapie. Internist 2011;52:362–373.

3 Dhankhar P, Isupov T, Araujo-Vilar D, et al. Estimating quality of life for patients with lipodystrophy. ISPOR 20th Annual International Meeting, Philadelphia, Pennsylvania. 16 May 2015.

4 Chan JL, Oral EA. Clinical classification and treatment of congenital and acquired lipodystrophy. Endocr Pract 2010;16:310-23.