Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy
Authors' conclusion
Diagnostic pathway in patients with genetic lipodystrophy is rendered difficult by the multisystemic features of the disease and the lack of knowledge of non-specialized physicians. Training physicians to systematically include adipose tissue examination in routine clinical evaluation should improve diagnosis and management of lipodystrophy and lipodystrophy-associated comorbidities.
Study context
- Population
- Patients with genetic lipodystrophy recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity; 84% womenof 175 eligible
- Participants
- 109 patients
- Exposure
- Partial familial lipodystrophy vs Congenital generalized lipodystrophy
- Partial familial lipodystrophyn = 93
- Congenital generalized lipodystrophyn = 16
- Outcome
- Diagnostic pathway from the patients' perspective (symptoms, steps to diagnosis, healthcare professionals involved)
Methodological detailsself-reported patient questionnaire, descriptive analyses
- Self-reported patient questionnaire
- Descriptive analyses
Main finding
As reported in the abstract
Median age at diagnosis (IQR 23-47)
30 years
Duration of diagnostic process (IQR 5-25)
12 years
>5 different physicians consulted before diagnosis
36%
Diagnosis made by endocrinologist
77%
Observational data: associations, not effects.
Further findings
Reported comorbidities and complications
- Diabetes
- 68%
- Hypertriglyceridemia
- 66%
- Hepatic steatosis
- 57%
- Hypertension
- 54%
- Irregular menstruation
- 60%
Original publication
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