hereditary transthyretin amyloidosis hattr epidemiology forecast insight

Hereditary Transthyretin Amyloidosis (hATTR) Insights and Trends

• According to DelveInsight’s analysis, the total diagnosed prevalent cases of hATTR were ~18,000 in the 7MM (the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan) in 2025.

• According to secondary research, late-onset and nonendemic cases of hATTR are more common than previously recognized. Disease severity by ambulatory status showed 59% in stage 1, 19% in stage 2, and 14% in stage 3. 

• hATTR is caused by a change or mutation in the transthyretin (TTR) gene, which is inherited (i.e., runs in families). This change makes the TTR protein unstable, so it folds the wrong way and attaches and builds up in different organs and tissues as amyloid.

• hATTR can present as polyneuropathy (hATTR-PN), primarily affecting the peripheral nervous system and leading to progressive motor decline with fatal outcomes within about ten years if untreated. Transthyretin amyloidosis–related cardiomyopathy, whether hereditary (hATTR-CM) or wild-type (ATTRwt-CM), primarily affects the heart, presenting as restrictive cardiomyopathy that can progress to heart failure and may result in death within about five years if untreated. 

• The rarity and clinical heterogeneity of hATTR amyloidosis complicate diagnosis, which is confirmed by Congo red–stained biopsy of affected tissue, with less invasive methods such as salivary gland, gastric mucosa, or fat aspiration biopsies increasingly utilized. 

• The hATTR mutation has a 50% inheritance risk, but variable penetrance means symptoms may not appear; therefore, close monitoring is essential, as asymptomatic carriers can still pass the disease to their children.

• The typical age for patients with the T80A (formerly known as T60A) mutation to start showing symptoms is usually between 45 and 78, most often after the age of 60.

Hereditary Transthyretin Amyloidosis (hATTR) Epidemiology Forecast in the 7MM

• 2025 hATTR Prevalent Cases: ~18,000

• 2036 hATTR Prevalent Cases: ~XXX

• hATTR Growth Rate (2026–2036): ~4% CAGR

Numbers are subject to change with report updation, clinical information updates, etc.

DelveInsight's ‘Hereditary Transthyretin Amyloidosis (hATTR) Epidemiology Forecast 2036’ report delivers an in-depth understanding of the hATTR, historical and forecasted epidemiology in the United States, EU4 (Germany, Spain, Italy, and France), and the United Kingdom, and Japan.

Hereditary Transthyretin Amyloidosis (hATTR) Understanding and Diagnosis Algorithm

Hereditary Transthyretin Amyloidosis (hATTR) is a rare, inherited disorder caused by mutations in the transthyretin (TTR) gene, leading to misfolded protein deposits (amyloid) in tissues. It primarily affects the peripheral nerves (hATTR-PN) and the heart (hATTR-CM), resulting in progressive neuropathy and cardiomyopathy. The disease shows variable penetrance and clinical heterogeneity, often causing delays in diagnosis. If untreated, hATTR can lead to severe disability and early mortality. Current treatments focus on stabilizing or reducing TTR protein production to slow disease progression.

Hereditary Transthyretin Amyloidosis (hATTR) Diagnosis

Diagnosis is often challenging due to its clinical heterogeneity and overlap with other neuropathies and cardiomyopathies. It is confirmed through genetic testing to identify pathogenic TTR gene mutations, along with tissue biopsy demonstrating amyloid deposits using Congo red staining with apple-green birefringence under polarized light. Common biopsy sites include the abdominal fat pad, salivary gland, gastric mucosa, or affected nerve tissue, offering both invasive and less invasive diagnostic options. In cases of cardiac involvement, echocardiography, cardiac MRI, and nuclear scintigraphy (e.g., bone-avid tracers) help detect transthyretin cardiac amyloid deposition. Early and accurate diagnosis is critical to initiate therapy before irreversible neurological or cardiac damage occurs.

Further details are provided in the report.

Hereditary Transthyretin Amyloidosis (hATTR) Epidemiology

Key Findings from Hereditary Transthyretin Amyloidosis (hATTR) Epidemiological Analysis and Forecast 

• As per DelveInsight’s analysis, the US accounted for nearly 65% of the total diagnosed prevalent cases of hATTR in the 7MM in 2025, which is expected to increase further by 2036.

• The secondary analysis indicates that hATTR generally affects both males and females equally, with no clear gender predominance. However, a possible parent-of-origin effect is suggested, as maternal inheritance may increase disease risk. In contrast, late-onset familial cases tend to show a higher prevalence among males. 

• In 2025, France recorded the highest diagnosed prevalence of hATTR among other EU4 countries and the United Kingdom. 

• In the USA, the highest proportion of hATTR cases is seen in Familial Amyloid Polyneuropathy (FAP) at 45%, followed by mixed hATTR, while the lowest proportion is observed in Familial Amyloid Cardiomyopathy (FAC). 

• In the USA, the New York Heart Association (NYHA) classification of FAC shows that the majority of patients fall under Class II (60%), followed by Class III, while the lowest proportion is seen in Class IV.

Numbers are subject to change with report updation, clinical information updates, etc.

Scope of the Report

• The report covers a segment of an executive summary, a descriptive overview of Hereditary Transthyretin Amyloidosis (hATTR), explaining its causes, signs and symptoms, and pathogenesis.

• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of the diagnosis rate, and disease progression.

Report Insights

Hereditary Transthyretin Amyloidosis (hATTR) Patient Population Forecast

Report Key Strengths

• Epidemiology‑based (Epi‑based) Bottom‑up Forecasting

• 11-year Forecast 

• Patient Burden Trends (by geography)

FAQs

• What are the disease risks, burdens, and unmet needs of Hereditary Transthyretin Amyloidosis (hATTR)? What will be the growth opportunities across the 7MM concerning the patient population with Hereditary Transthyretin Amyloidosis (hATTR)?

• What is the historical and forecasted Hereditary Transthyretin Amyloidosis (hATTR) patient pool in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?

Reasons to Buy

• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.

• To understand key opinion leaders’ perspectives on the diagnostic challenges to overcome barriers in the future.

• Detailed insights into various factors hampering disease diagnosis and other existing diagnostic challenges.