Lipodystrophies

Lipodystrophies panel [12 genes]:

Lipodystrophies are a heterogeneous group of rare diseases whose common characteristic is the selective loss of adipose tissue. However, they predispose to the development of metabolic complications similar to those observed in obesity.

These complications include alterations in lipid metabolism (increase in triglycerides and decrease in HDL) as well as insulin resistance and diabetes mellitus, entities associated with an increased risk of early atherosclerosis.

Adequate coverage for structural variants or CNVs (copy number variants)

Study requisition form
Informed consent
AGPAT2AKT2BSCL2CAV1CAVIN1CIDECLMNAPLIN1PPARGZMPSTE24
PSMB8LIPE

Lipodystrophies are a heterogeneous group of rare diseases whose common characteristic is the selective loss of adipose tissue. However, they predispose to the development of metabolic complications similar to those observed in obesity.

These complications include alterations in lipid metabolism (increase in triglycerides and decrease in HDL) as well as insulin resistance and diabetes mellitus, entities associated with an increased risk of early atherosclerosis.

Adequate coverage for structural variants or CNVs (copy number variants)

Study requisition form
Informed consent
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

Suspicion of Congenital Generalized Lipodystrophy (CGL) (Berardinelli-Seip):
Presence of at least 3 major criteria or presence of 2 major + 2 or more minor criteria:

  • Major criteria:
    1. Lipoatrophy affecting the torso, limbs, and face
    2. Acromegaloid features
    3. Hepatomegaly secondary to hepatic steatosis or cirrhosis
    4. Increase of serum concentration of triglycerides (> 80g/l), in some cases associated with hypercholesterolemia
    5. Insulin resistance
  • Minor criteria:
    1. Hypertrophic cardiomyopathy
    2. Psychomotor retardation or mild-moderate cognitive dysfunction
    3. Hirsutism
    4. Premature puberty in female patients
    5. Bone cysts
    6. Bulging veins

 

Suspicion of familial partial lipodystrophy (FPL):

  1. Normal fat distribution during childhood
  2. Loss of subcutaneous fat in limbs, torso, and gluteal region during puberty
  3. Redistribution of excess fat to face, neck, back, labia majora, and abdominal cavity or organs (liver)
  4. Hepatic steatosis
  5. Significant hypertrophy of skeletal muscle fibers
  6. Metabolic complications, including hyperlipidemia, hypertriglyceridemia, and diabetes
  7. Hyperandrogenism, infertility, gestational diabetes, and obstetric complications in women

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para mayor información.

ACEPTAR
Aviso de cookies