ResearchBIORXIVYesterday
Scientists discovered that fasting may help reverse heart damage caused by a specific genetic mutation in the PLN gene called R14del. This mutation causes a common type of inherited heart disease where abnormal protein clumps build up in heart cells. The research shows that fasting activates the cell's cleanup system (lysosomes) to remove these harmful clumps and restore heart function.
WHY IT MATTERSIf confirmed in human studies, fasting could offer PLN R14del cardiomyopathy patients a non-drug intervention to potentially reverse heart damage, though this is currently only demonstrated in laboratory research and requires clinical validation.
NewsRSS3 days ago
A patient with ATTR-CM (a rare heart disease caused by abnormal protein buildup) is sharing their experience saying goodbye to a doctor who understood their condition deeply. When you have a rare disease, finding a doctor who takes time to learn your personal story and medical history is especially valuable. This article highlights how important that doctor-patient relationship is for people managing uncommon health conditions.
WHY IT MATTERSFor ATTR-CM patients, continuity of care with a knowledgeable physician directly impacts treatment decisions and quality of life, making transitions to new doctors particularly challenging.
NewsRSS3 days ago
ATTR-CM is a rare heart disease caused by abnormal protein buildup, but many patients also experience serious stomach and digestive problems that doctors don't always talk about. These gastrointestinal issues—like difficulty swallowing, nausea, and poor nutrient absorption—can be just as challenging as the heart symptoms and significantly impact quality of life. The article highlights that patients need better awareness and support for managing these hidden digestive complications alongside their heart treatment.
WHY IT MATTERSATTR-CM patients often suffer from overlooked gastrointestinal complications that can worsen malnutrition and quality of life, yet these symptoms receive less medical attention than cardiac manifestations—understanding this connection helps patients advocate for comprehensive care.