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Humangenetik

, Volume 29, Issue 2, pp 111–120 | Cite as

Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes

  • J. Köbberling
  • B. Willms
  • R. Kattermann
  • W. Creutzfeldt
Original Investigations

Summary

A female patient with the following symptoms has been observed: complete absence of subcutaneous fat on the arms and legs, well developed adipose tissue on the trunk and face, severe hyperlipidemia, eruptive xanthomas, insulin resistant diabetes mellitus with lack of ketoacidosis, hepatomegaly and elevated basal metabolic rate. The patient thus exhibited all characteristics of lipatrophic diabetes (Lawrence type of diabetes).

The mother and a sister of the patient were found to have the same peculiar appearence and a slight hyperlipidemia but no diabetes mellitus. The combination of this type of partial lipodystrophy with severe hyperlipidemia, insulin resistant diabetes mellitus without ketoacidosis and elevated basal metabolic rate was further observed in 2 unrelated patients without known familial occurrence.

Thus partial lipodystrophy of the extremities is another, previously undescribed, syndrome associated with the Lawrence type of diabetes mellitus. In the 1 family the syndrome of lipodystrophy and hyperlipidemia is dominantly inherited. Besides the autosomal recessively inherited syndrome of congenital generalized lipodystrophy there is a heterogenous group of dominantly inherited syndromes with various types of lipodystrophy.

Keywords

Diabetes Mellitus Internal Medicine Adipose Tissue Female Patient Metabolic Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1975

Authors and Affiliations

  • J. Köbberling
    • 1
  • B. Willms
    • 1
  • R. Kattermann
    • 1
  • W. Creutzfeldt
    • 1
  1. 1.Department of Internal MedicineUniversity of GöttingenGermany

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