Helen Lachmann discusses the challenges in amyloidosis care, emphasizing the gap between drug approval and patient access due to health economics. She advocates for international collaboration to improve treatment for this ultra-rare disease.
I went into amyloidosis research in 1999 as a very naïve nephrologist who wanted to do clinical-based research in multisystem diseases... I went into amyloidosis research in 1999 as a very naïve nephrologist who wanted to do clinical-based research in multisystem diseases. I was very lucky to coincide with a period of huge advances spanning the understanding of pathogenesis to innovations in treatment. A drug be approved and still take years to reach a patient because the health economics case for an ultra-rare, high-cost therapy is hard to build. That gap between ‘licensed’ and ‘actually prescribable’ is, in my view, the bit that deserves far more attention than it currently gets. The nicest opportunity, I think, is international collaboration by pooling patients, sharing registries, and treating a rare disease trial as a genuinely global project. The way modern healthcare is structured is not always helpful in recognising multisystem disease. Tingling hands go to the neurologist or surgeon, breathlessness to the cardiologist, and fatigue gets blamed on getting older. All too often, each specialist offers a reasonable but wrong explanation, and that leaves the patient trying to connect the pieces. The best solution should not ask any one clinician to become an expert in all rare multisystem diseases. Over my career, AA amyloidosis has changed from being a relatively frequent finding to becoming a genuinely rare cause of renal amyloid. This reflects advances in the control of chronic inflammation in general, particularly the widespread introduction of highly effective biologic therapies into rheumatology practice. As a result, we now see very few cases of AA amyloidosis complicating inflammatory arthritis or autoinflammatory disease.
Original title: “Transforming Amyloidosis Care: An Interview with Helen Lachmann - European Medical Journal”