It is difficult to say that there is more evidence for cardiac amyloidosis (CA) than for ischemic heart disease. On the other hand, 99 m technetium pyrophosphate ( 99 m Tc-PYP) scintigraphy has been reported to be useful with high sensitivity and specificity, especially in transthyretin (TTR) amyloidosis (ATTR) 1,2 Due to the spread of diagnosis using this method, CA, especially wild-type ATTR (ATTRwt) amyloidosis, which has traditionally been considered a rare disease, is more prevalent than previously assumed, and encountered relatively frequently in daily clinical practice. Furthermore, treatment for not only amyloid light-chain (AL) amyloidosis, but also ATTR, has also progressed rapidly. Tafamidis, a drug that stabilizes the TTR tetramer and suppresses amyloid fibril formation and tissue deposition, was listed and used in Japan in November 2013 for the treatment of peripheral neuropathy in patients with hereditary (variant) ATTR (ATTRv) amyloidosis. In addition, following the results of the 2018 Transthyretin Amyloidosis Cardiomyopathy Clinical Trial (ATTR-ACT), which showed the efficacy of tafamidis for CA, 3 the use of TTR to treat CA was approved in March 2019 in Japan.Needless to say, amyloidosis is a systemic disease, and in Japan, numerous studies have been conducted and medical treatments devised by the Ministry of Health, Labour and Welfare (MHLW)'s "Research Group on Amyloidosis", a research project on intractable disease policy. The present guidelines have been developed in coordination between the MHLW's "Research Group on Amyloidosis", the Japanese Circulation Society (JCS) and cardiology-related societies, the Japanese Society of Amyloidosis, and the Japanese Society of Hematology. Systemic amyloidosis specified by the MHLW as being an incurable disease is classified into the following four types.

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Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is prevalent in Mediterranean populations. While it is considered a rare disease in the rest of world, a significant number of FMF patients have been reported in East Asia, including Japan. Our aim was to determine the prevalence of FMF in Japan and elucidate the clinical and genetic features of Japanese patients. A primary nationwide survey of FMF was conducted between January and December 2009. Hospitals specializing in pediatrics and hospitals with pediatric, internal medicine, and rheumatology/allergy departments were asked to report all patients with FMF during the survey year. The estimated total number of Japanese FMF patients was 292 (95% confidence interval, 187-398 people). We evaluated the clinical and genetic profiles of Japanese patients from the data obtained in a secondary survey of 134 FMF patients. High-grade fever was observed in 95.5%, chest pain (pleuritis symptoms) in 36.9%, abdominal pain (peritonitis symptoms) in 62.7%, and arthritis in 31.3%. Of the patients profiled, 25.4% of patients experienced their first attack before 10 years of age, 37.3% in their teens, and 37.3% after age 20 years. Colchicine was effective in 91.8% of patients at a relatively low dose (mean dose, 0.89 ± 0.45 mg/d). AA amyloidosis was confirmed in 5 patients (3.7%). Of the 126 patients studied, 109 (86.5%) were positive for 1 or more genetic mutations and 17 (13.5%) had no mutation detected. Common Mediterranean fever gene (MEFV) mutations were E148Q/M694I (19.8%) and M694I/normal (12.7%). The differences in the prevalence of peritonitis, pleuritis, and a family history of FMF were statistically significant between FMF patients with MEFV exon 10 mutations compared with those without exon 10 mutations.In conclusion, a significant number of patients with FMF exist in Japan. Although Japanese patients with FMF are clinically or genetically different from Mediterranean patients, the delay in diagnosis is an issue that should be resolved.