Cardiac Amyloidosis, Epidemiology, Diagnosis, Management with Novel Treatment Options
No Thumbnail Available
Date
2022
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
Vairāk nekā seši tūkstoši patoloģiju līdz šim ir klasificētas kā retas slimības. Vārds, kas visbiežāk biedē ne tikai diagnozes saņēmējus, bet arī mediķus, kuru zināšanas par tēmu bieži vien ir ierobežotas. Tā kā katra retā slimība skar tikai dažus indivīdus, šī joma cieš no medicīnas un zinātnes zināšanu trūkuma.
Tie, kurus skārušas šīs slimības, saskaras ar visām līdzīgām grūtībām, piemēram, psiholoģisko, sociālo, ekonomisko un kultūras neaizsargātību.
Tā kā trūkst pietiekamu zinātnisku un medicīnisku zināšanu, daudzi pacienti netiek diagnosticēti un viņu slimība netiek identificēta. Tie ir cilvēki, kuri visvairāk cieš no grūtībām saņemt atbilstošu atbalstu.
Ilgu laiku gandrīz nebija pētījumu un politikas attiecībā uz retajām slimībām, līdz pavisam nesen, kur dažās jomās ir panākts iespaidīgs progress.
Šis ir sirds amiloidozes gadījums, kas mūsdienās tiek atzīts par ļoti nepietiekami diagnosticētu stāvokli. Jaunākie dati ir klasificēti kā reta slimība, un jaunākie dati liecina, ka tās reālā izplatība varētu būt daudz augstāka nekā iepriekš gaidīts, veidojot vairāk nekā 13% no visiem sirds mazspējas gadījumiem ar saglabātu izsviedes frakciju (HFpEF), vai arī konstatēta vairāk nekā 16% pacientu, kuriem tiek veikta transkatetera aortas vārstuļa iejaukšanās (TAVI).
Ļoti efektīvu, neinvazīvu sirds amiloidozes diagnostikas rīku parādīšanās ir radījusi lielu interesi par šo patoloģiju.
Dažādu slimības formu atpazīšana, kur savvaļas tipa transtiretīna amiloidoze (wtATTR) ir visizplatītākā, ir nodrošinājusi tādu terapiju izstrādi, kas īpaši vērstas uz dažādiem variantiem.
Līdz šim pirmā terapija ir īpaši apstiprināta TTR sirds amiloidozes ārstēšanai, savukārt daudzām citām pašlaik tiek veikti agrīni vai uzlaboti klīniskie pētījumi.
Vēl nesen vienīgā pieejamā iespēja sirds amiloidozes diagnosticēšanai bija endomiokarda biopsija. Invazīva metode, kas jebkurā gadījumā nebūtu devusi nekādu labumu pacientam, jo nebija pieejama efektīva terapija.
Scintigrāfijas parādīšanās ar kaulu avid radiotraceriem kā galveno diagnostikas instrumentu sirds amiloidozes noteikšanai ir ļoti atvieglojusi šo procesu.
Kaulu scintigrāfijas kombinācija kopā ar “sarkano karodziņu” simptomu atpazīšanu ir ļāvusi definēt pareizu diagnostikas algoritmu, kam viegli sekot līdzi visi kardiologi.
Interese par šo patoloģiju šodien neaprobežojas tikai ar vienu iestādi vai uzņēmumu, bet tagad ir ļoti plaša un dalīta no svarīgākajām kardioloģijas asociācijām, kā arī medicīnas iestādēm un nozares uzņēmumiem.
Over six thousand pathologies are to date classified as rare diseases. A word that most often scares not only the patients receiving the diagnosis, but also the physicians, whose knowledge is frequently limited on the topic. With only few individuals affected from each rare disease, the field suffers from a deficit of medical and scientific knowledge. Those affected by these diseases, face all similar difficulties such as psychological, social, economical and cultural vulnerability. Due to the lack of sufficient scientific and medical knowledge, many patients remain undiagnosed and their disease not identified. These are the people who suffer the most from difficulties in receiving appropriate support. For a long time, there was almost no research and policies on rare diseases until very recently, where impressive progresses have been made in certain fields. This is the case of cardiac amyloidosis, today recognised as a severely under-diagnosed condition. Classified as a rare disease, the most recent datas has proven that its real prevalence could be much higher than previously expected, representing over 13% of all heart failures with preserved ejection fraction (HFpEF), or been detected in over 16% of patients undergoing a transcatheter aortic valve intervention (TAVI). The advent of highly effective, non invasive diagnostic tools for cardiac amyloidosis, has generated a strong interest toward this pathology. The recognition of different forms of the disease, with wild type transthyretin amyloidosis (wtATTR) being by far the most common one, has ensured the development of therapies specifically targeting the different variants. To date, the first therapy has been specifically approved for TTR cardiac amyloidosis, while many others are currently undergoing early or advanced clinical trials. Until recently, the only available option for the diagnosis of cardiac amyloidosis, was the endomiocardial biopsy. An invasive method , which in any case would not have brought any benefit to the patient since no effective therapy was available. The advent of a scintigraphy with bone avid radiotracers as core diagnostic tool for the detection of cardiac amyloidosis, has very much eased the process. The combination of the bone scintigraphy, together with the recognition of “red flags” symptoms has allowed the definition of a proper diagnostic algorithm that can be easily be followed by all cardiologist. The interest toward this pathology is today not limited to a single institution or company, but is now very broad and shared from the most important cardiology associations as well as medical institution and companies in the field.
Over six thousand pathologies are to date classified as rare diseases. A word that most often scares not only the patients receiving the diagnosis, but also the physicians, whose knowledge is frequently limited on the topic. With only few individuals affected from each rare disease, the field suffers from a deficit of medical and scientific knowledge. Those affected by these diseases, face all similar difficulties such as psychological, social, economical and cultural vulnerability. Due to the lack of sufficient scientific and medical knowledge, many patients remain undiagnosed and their disease not identified. These are the people who suffer the most from difficulties in receiving appropriate support. For a long time, there was almost no research and policies on rare diseases until very recently, where impressive progresses have been made in certain fields. This is the case of cardiac amyloidosis, today recognised as a severely under-diagnosed condition. Classified as a rare disease, the most recent datas has proven that its real prevalence could be much higher than previously expected, representing over 13% of all heart failures with preserved ejection fraction (HFpEF), or been detected in over 16% of patients undergoing a transcatheter aortic valve intervention (TAVI). The advent of highly effective, non invasive diagnostic tools for cardiac amyloidosis, has generated a strong interest toward this pathology. The recognition of different forms of the disease, with wild type transthyretin amyloidosis (wtATTR) being by far the most common one, has ensured the development of therapies specifically targeting the different variants. To date, the first therapy has been specifically approved for TTR cardiac amyloidosis, while many others are currently undergoing early or advanced clinical trials. Until recently, the only available option for the diagnosis of cardiac amyloidosis, was the endomiocardial biopsy. An invasive method , which in any case would not have brought any benefit to the patient since no effective therapy was available. The advent of a scintigraphy with bone avid radiotracers as core diagnostic tool for the detection of cardiac amyloidosis, has very much eased the process. The combination of the bone scintigraphy, together with the recognition of “red flags” symptoms has allowed the definition of a proper diagnostic algorithm that can be easily be followed by all cardiologist. The interest toward this pathology is today not limited to a single institution or company, but is now very broad and shared from the most important cardiology associations as well as medical institution and companies in the field.
Description
Medicīna
Medicine
Veselības aprūpe
Health Care
Medicine
Veselības aprūpe
Health Care
Keywords
Sirds amiloidoze, transtiretīns (TTR), sirdskaite, HFpEF, retas slimības, mērķa terapija, TAVI, kaulu scintigrāfija, Cardiac amyloidosis; transthyretin (TTR), heart failure, HFpEF, rare diseases, target therapy, TAVI, bone scintigraphy