Скачать или смотреть Patient Perspective: Diagnostic Journey and Challenges of Lipodystrophy

Christine Coppini, patient with lipodystrophy, discusses her diagnostic journey and challenges she faces living with a rare disease.

Lipodystrophies are rare metabolic disorders characterized by the loss of adipose tissue. This leads to complications such as insulin resistance, diabetes mellitus, hypertriglyceridemia, and fatty liver. Lipodystrophies generally begin in childhood and have an underlying autoimmunity. The disorder can be genetic or acquired. Symptoms that may indicate a should be evaluated for lipodystrophy include thin arms and legs, prominent muscular veins, cutaneous fat around abdomen, and difficult to treat diabetes. Current management of patients includes cosmetic surgery, diet, and drug therapy for control of diabetes and dyslipidemia. Leptin replacement therapy is the only lipodystrophy-specific treatment.

Ms. Coppini was diagnosed with lipodystrophy in 2023 after about 15 years of illness that had no proper diagnosis. She started her journey as a teenager when she was diagnosed with polycystic ovary syndrome (PCOS). However, when her symptoms were worsening she was told that she was just diabetic, overweight, and noncompliant with her treatment plan. Later in life, after symptoms continued to persist, she was put on a medical leave of absence from work to figure out what was really going on.

After going to an ENT thinking a possible allergy was behind her symptoms, the physician tested her for Cushing’s. The MRI came back negative for pituitary involvement but with tumors on her adrenal glands. She was then sent to UCLA Medical Center where a doctor finally pieced together her symptoms and diagnosed her with lipodystrophy.

Ms. Coppini describes the most burdensome symptoms that impact her daily life and work as fatigue, nausea, constipation, feet pain and neuropathy, carpal tunnel, and cataracts. She wishes doctors better understood the pain and fatigue symptoms better and how much they impact her life. She stresses the importance of physicians being compassionate and really listening to their patients and being willing to learn.

Current therapies have made a significant impact on Ms. Coppini’s life, noting that once she received her diagnosis and started treatment her mental health improved drastically. She experienced a weight of her shoulders and finally feeling hope after going so long without a proper diagnosis.

Her advice for new patients is to find a community through support groups and patient advocacy organizations. It is through these where a patient can talk about their struggles and worries and get feedback from other patients who have experienced similar situations. She also highlights the importance of looking at the positives in a situation and following doctors instructions to maintain health.

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