Lipodystrophy, Partial, Acquired (APLD)

External Ids:

OMIM®: ⁵⁷ Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1). There is an association between APLD and autoimmune diseases (Misra and Garg, 2003; Misra et al., 2004), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; 613913). Acquired partial lipodystrophy is distinct from inherited forms of partial lipodystrophy, which are metabolic disorders that show clear mendelian inheritance (see, e.g., FPLD1, 608600). (608709) (Updated 08-Dec-2022)

MalaCards based summary: Lipodystrophy, Partial, Acquired, also known as acquired partial lipodystrophy, is related to acute promyelocytic leukemia and lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis. An important gene associated with Lipodystrophy, Partial, Acquired is LMNB2 (Lamin B2). Affiliated tissues include skin, kidney and ovary, and related phenotypes are lipoatrophy and intellectual disability

GARD: ¹⁹ Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.

UniProtKB/Swiss-Prot: ⁷³ A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Intellectual disability in some cases. APLD is a sporadic disorder of unknown etiology.

Orphanet: ⁵⁸ A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.

Wikipedia: ⁷⁵ Barraquer-Simons syndrome is a rare form of lipodystrophy, which usually first affects the head, and... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Lipodystrophy, Partial, Acquired