Cardiac Amyloidosis in Africa: Closing the Diagnostic Blindspot
Cardiac amyloidosis in Africa is a devastating but under-recognized condition that is silently impacting communities across the continent. Despite strong evidence linking it to genetic variants common in people of African ancestry, it remains vastly underdiagnosed in Kenya and many other African countries.
At CRK NGO, we are pioneering efforts to transform the way cardiac amyloidosis is understood, diagnosed, and treated in Africa. Through research, advocacy, and capacity building, we are uncovering the genetic barriers, diagnostic blindspots, and policy gaps that have long kept patients invisible in healthcare systems.
What is Cardiac Amyloidosis?
Misfolded transthyretin (TTR) proteins deposit in the heart muscle and form amyloid fibrils. These deposits interfere with the heart’s normal function. Over time, this leads to stiffening of the heart, arrhythmias, and ultimately heart failure.
The V142I mutation (formerly called V122I) is particularly relevant to Africa. Between 3–5% of individuals of African ancestry carry this mutation, making it far more common than most clinicians realize. Unlike in European populations, where amyloidosis may involve multiple organs, African patients with this mutation typically present with cardiac disease alone.
This genetic predisposition highlights a crucial reality: amyloidosis is not rare in Africa, it is rarely diagnosed.
Clinical Significance of the V142I Variant in African Populations
The V142I mutation, also referred to as p.Val142Ile, is highly relevant to African populations. Unlike in European or Asian cohorts, where transthyretin amyloidosis often presents with mixed cardiac and neurological involvement, patients of African ancestry carrying this mutation typically exhibit a predominantly cardiac phenotype.
This means that the disease primarily affects the heart, leading to progressive stiffening of the myocardium, arrhythmias, and eventual heart failure. Importantly, this cardiac-only presentation often leads to misdiagnosis as hypertensive heart disease, especially in regions where hypertension is common.
Understanding the clinical significance of the V142I mutation in African populations is crucial for shaping diagnostic strategies, developing targeted interventions, and ensuring earlier treatment for patients in Kenya and across the continent.
Why Amyloidosis in Kenya and Africa is Rarely Diagnosed
Despite its prevalence, cardiac amyloidosis is rarely identified in African patients. Several systemic challenges contribute to this blindspot:
Low clinical suspicion: Many cases are misdiagnosed as hypertensive heart disease, ischemic cardiomyopathy, or diabetic heart complications.
Lack of testing infrastructure: Advanced genomic sequencing capacity remains limited across sub-Saharan Africa, restricting early detection.
Policy blindspots: Rare diseases like hATTR are often excluded from Universal Health Coverage (UHC) plans and national NCD strategies.
High financial barriers: Out-of-pocket costs for testing and treatment make access unattainable for most families.
The result? Clinicians often diagnose patients late, by which time heart failure has advanced and treatment options have narrowed.
The Importance of Early Diagnosis
Early diagnosis of cardiac amyloidosis is crucial for improving patient outcomes. Patients benefit most from Disease-modifying therapies such as tafamidis, patisiran, and inotersen when doctors start treatment early.
Equally important is family screening. By identifying carriers of the V142I mutation, clinicians can monitor relatives and intervene before severe symptoms develop. Unfortunately, in Kenya and most of Africa, limited access to testing means entire families remain unaware of their risk.
Unless we act now, late diagnoses will keep driving poor outcomes for patients. Therefore, urgent interventions are essential to break this cycle.
CRK NGO’s Pioneering Role in Kenya and Africa
At CRK NGO, we are breaking barriers and leading research into cardiac amyloidosis in East Africa. Moreover, we focus on four key initiatives:
1. Clinical Awareness
We train healthcare providers to recognize red flags for amyloidosis, including heart failure with preserved ejection fraction (HFpEF), unexplained arrhythmias, and thickened heart walls in echocardiography. By raising awareness, we help doctors consider amyloidosis earlier in the diagnostic journey.
2. Genomic Research
Through partnerships, we are advancing local studies to determine the prevalence of the V142I mutation in Kenyan populations. By building Kenya’s first amyloidosis research hub, we aim to generate evidence that informs both clinical practice and health policy.
3. Policy Advocacy
We actively call for amyloidosis and other rare diseases to be included in Kenya’s NCD strategies and UHC framework. Without policy recognition, patients remain excluded from life-saving diagnostic and treatment programs.
4. Capacity Building
We invest in training and education programs for healthcare professionals, ensuring they have the tools to diagnose, manage, and support amyloidosis patients effectively.
Impact Beyond Research in Cardiac Amyloidosis in Africa
Our work goes beyond science. CRK NGO is committed to:
Supporting patients and families living with amyloidosis.
Collaborating with global partners to bring affordable diagnostics and therapies to Africa.
Sharing findings that influence national and regional health guidelines.
Through these efforts, we are positioning Kenya as a regional leader in amyloidosis research, awareness, and care.
Conclusion
Cardiac amyloidosis is not just a global health issue, it is an African health challenge hidden in plain sight. With thousands of people in Kenya and across Africa potentially carrying the V142I mutation, the scale of the problem is far greater than reported.
As pioneering researchers on amyloidosis in Kenya and Africa, CRK NGO is leading the charge to close the diagnostic blindspot. Through research, policy advocacy, and capacity building, we are rewriting the future for patients and communities long overlooked.
FAQs
What is cardiac amyloidosis?
Cardiac amyloidosis is a disease caused by misfolded proteins depositing in the heart muscle, leading to stiffness and heart failure.
Why is cardiac amyloidosis important in Africa?
Genetic mutations such as V142I are common in African populations, yet the disease is underdiagnosed due to lack of awareness and testing.
What are the symptoms of cardiac amyloidosis?
Common symptoms include fatigue, swelling, irregular heartbeat, and heart failure with preserved ejection fraction (HFpEF).
How is cardiac amyloidosis treated?
Treatment includes disease-modifying drugs like tafamidis and patisiran, symptom management, and family screening.
What is CRK NGO’s role in amyloidosis research?
CRK NGO is pioneering research in Kenya, advancing genomic studies, raising awareness, and advocating for policy reforms.