Publications by authors named "S Janmaat"
Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.
Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.
Article Synopsis
- Rare syndromes like lipodystrophy and insulin resistance have varied symptoms, making early detection and treatment crucial to prevent complications.
- A study analyzed 292 patients with these syndromes, focusing on their age at referral and the time taken from the first symptoms to diagnosis and specialized care, with notable variances among different conditions.
- Findings showed a median age of 47.6 years at referral, with significant diagnostic delays, particularly in women with Familial Partial Lipodystrophy, who experienced symptoms much earlier but faced prolonged times to diagnosis.
Article Synopsis
- Genetic lipodystrophies are underdiagnosed rare diseases that lead to various complications, and this study aimed to understand the diagnostic journey from the patients' perspectives.
- A survey of 109 patients revealed a median age of 30 years at diagnosis, often after a long and challenging process involving multiple healthcare professionals, primarily endocrinologists.
- Findings suggest that improved training for physicians to recognize and assess symptoms related to adipose tissue could enhance the diagnosis and management of these conditions.
Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network.
Diabetes Obes Metab
August 2022
Aim: To describe baseline characteristics and follow-up data in patients with lipodystrophy syndromes treated with metreleptin in a national reference network, in a real-life setting.
Patients And Methods: Clinical and metabolic data from patients receiving metreleptin in France were retrospectively collected, at baseline, at 1 year and at the latest follow-up during treatment.
Results: Forty-seven patients with lipodystrophy including generalized lipodystrophy (GLD; n = 28) and partial lipodystrophy (PLD; n = 19) received metreleptin over the last decade.
Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins), is to provide health professionals with a guide to optimal management and care of patients with FPLD2, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), is available on the French Health Authority website (in French).
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