Why HFpEF Is Often Misdiagnosed and What Can Be Done to Improve Diagnosis

Heart failure with preserved ejection fraction (HFpEF) is a complex and increasingly common form of heart failure that affects nearly half of all patients diagnosed with heart failure. Despite its prevalence, HFpEF is frequently misdiagnosed or overlooked entirely. Patients may go years without a proper diagnosis, receiving treatment for symptoms like fatigue or shortness of breath without addressing the underlying cardiac issue.

Why Is HFpEF Hard to Diagnose?

HFpEF, also known as diastolic heart failure, occurs when the heart’s left ventricle retains a normal ejection fraction (typically 50% or higher) but becomes stiff and doesn’t relax properly. This leads to poor filling between beats, resulting in symptoms that are nearly indistinguishable from other forms of heart failure.

Several factors contribute to HFpEF’s diagnostic challenge:

Normal ejection fraction readings: Many clinicians still associate heart failure primarily with reduced ejection fraction. When test results show preserved EF, they may rule out heart failure prematurely.

Nonspecific symptoms: Fatigue, dyspnea (shortness of breath), exercise intolerance, and fluid retention are common in many conditions, including COPD, anemia, obesity, and kidney disease. HFpEF symptoms often mimic or overlap with these.

Comorbidities: Patients with HFpEF frequently have other chronic conditions, such as hypertension, diabetes, atrial fibrillation, or obesity, that complicate the clinical picture and make diagnosis more difficult.

Lack of standard diagnostic criteria: While guidelines exist, there’s no universally accepted gold standard for diagnosing HFpEF. Many cases fall into a gray zone, especially in primary care settings.

Can Diastolic Heart Failure Be Misdiagnosed?

Absolutely, and it often is. HFpEF may be mistaken for conditions like:

Deconditioning in elderly patients

Asthma or COPD, particularly when shortness of breath is the leading complaint

Obesity-related fatigue

Kidney disease, which also causes fluid retention and edema

Depression or anxiety, especially in women, who are more likely to have HFpEF and are less likely to be taken seriously when presenting with vague symptoms

Why Don’t We Have Proven Treatments for HFpEF?

The lack of targeted therapies is one of the most frustrating aspects of HFpEF for both patients and providers. Unlike HFrEF, which benefits from a broad range of evidence-based treatments, HFpEF has proven more resistant to standardized pharmacologic interventions.

Here’s why:

Heterogeneity of the condition: HFpEF isn’t a single disease; it’s a syndrome with multiple contributing factors, including hypertension, diabetes, metabolic dysfunction, and systemic inflammation.

Clinical trial limitations: Many large-scale trials for HFpEF have failed to demonstrate significant mortality or hospitalization benefits from common heart failure medications. This has left providers with limited tools beyond symptom management.

Changing definitions and diagnostic ambiguity: Many studies include a highly varied population without a consistent way to identify and enroll patients with HFpEF, diluting the efficacy of treatments being tested.

What Is the Best Treatment for HFpEF?

While there’s no universally approved “cure” for heart failure with preserved ejection fraction (HFpEF), a growing body of evidence supports a combination of lifestyle changes, targeted therapy, and management of comorbid conditions:

1. Lifestyle Modifications

Regular physical activity improves exercise tolerance and vascular function.

Weight loss in obese patients significantly improves symptoms.

Sodium reduction helps manage fluid retention and blood pressure.

2. Treating Underlying Conditions

Controlling hypertension is crucial, as high blood pressure contributes to ventricular stiffness.

Managing diabetes and atrial fibrillation can reduce stress on the heart.

Sleep apnea screening and treatment are recommended for high-risk individuals.

3. Medications

SGLT2 inhibitors are currently the most promising new class of drugs for HFpEF patients.

Diuretics help relieve congestion but don’t change the long-term course of the disease.

ARNIs and mineralocorticoid receptor antagonists may help select patient subgroups, though their use in HFpEF remains under investigation.

How Can Diagnosing the Symptoms of Heart Failure With Preserved Ejection Fraction (HFpEF) Be Improved?

Improving the diagnosis of HFpEF requires a multifaceted approach across all levels of healthcare:

Raising awareness: Clinicians must be educated to consider HFpEF in patients with classic heart failure symptoms but normal EF.

Using advanced diagnostics: Tools like echocardiography, BNP testing, cardiac MRI, and invasive hemodynamic assessments can improve accuracy.

Multidisciplinary care: Cardiologists, internists, pulmonologists, and geriatricians should collaborate on cases involving complex or overlapping symptoms.

Adopting diagnostic algorithms: Tools like the H2FPEF score offer a standardized way to evaluate the likelihood of HFpEF using clinical markers such as BMI, age, and echocardiographic findings.

Final Thoughts

Heart failure with preserved ejection fraction (HFpEF) continues to challenge physicians due to its diagnostic complexity and lack of clear treatment pathways. However, awareness is growing, with opportunities to improve outcomes.

By investing in early detection, developing personalized treatments, and emphasizing multidisciplinary care, we can better support patients living with this elusive and often misunderstood form of heart failure.