Familial Primary Pulmonary Hypertension - Market Insight, Epidemiology, and Market Forecast - 2034

Key Highlights:

• FPPH is a rare inherited Pulmonary Arterial Hypertension (PAH) (WHO Group 1) caused by BMPR2 mutations, leading to high pulmonary pressure and right heart strain. Early diagnosis and lifelong PAH-specific therapy are indicated to slow progression, relieve symptoms, and reduce right heart failure risk.
• Based on secondary analysis, approximately 12.4 cases of PAH per million adults are currently diagnosed in the US, highlighting the rarity of the disease and the need for early detection and timely management.
• In France, the prevalence of FPPH is estimated at approximately 3.9%, highlighting its rarity yet significant clinical impact and the importance of early diagnosis and management.
• Some approved medications, such as WINREVAIR (sotatercept-csrk) by Merck, OPSUMIT (macitentan) by Johnson & Johnson, and ORENITRAM (treprostinil) by United Therapeutics, are currently available for treating PAH, WHO Group 1. However, the progressive nature of the disease and its clinical complexity have created an increasing demand for additional therapeutic options to improve treatment outcomes, enhance patient quality of life, and address the diverse needs of this patient population.
• Despite being a life-threatening condition, FPPH remains significantly underdiagnosed, with very limited epidemiological data available, making it challenging to fully understand disease burden. There is a critical unmet need for earlier detection, improved awareness, and access to effective therapies to slow disease progression, manage symptoms, and reduce the risk of right heart failure in affected patients.

DelveInsight's comprehensive report titled "Familial Primary Pulmonary Hypertension (FPPH) - Market Insights, Epidemiology, and Market Forecast - 2034" offers a detailed analysis of FPPH. The report presents historical and projected epidemiological data covering total diagnosed prevalent cases of PAH, total diagnosed prevalent cases of FPPH, and treated cases of FPPH. In addition to epidemiology, the market report encompasses various aspects related to the patient population. These aspects include the diagnosis process, prescription patterns, physician perspectives, market accessibility, treatment options, and prospective developments in the market across 7MM: the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan, spanning from 2020 to 2034.

The report analyzes the existing treatment practices and unmet medical requirements in FPPH. It evaluates the market potential and identifies potential business prospects for enhancing therapies or interventions. This valuable information enables stakeholders to make well-informed decisions regarding product development and strategic planning for the market.

Familial Primary Pulmonary Hypertension (FPPH) Overview

FPAH, also known as heritable pulmonary arterial hypertension (HPAH), is a form of PAH that arises due to genetic mutations or occurs within families. It belongs to WHO Group 1 pulmonary hypertension, which is characterized by the narrowing of small blood vessels in the lungs. This group also includes idiopathic PAH, where the underlying cause of the vascular narrowing remains unknown. Within WHO Group 1, several subtypes exist, including heritable or familial pulmonary hypertension is often linked to mutations in specific genes, such as the BMPR2 gene. Individuals affected by this condition often experience early symptoms such as shortness of breath (dyspnea), fatigue, fainting spells (syncope), chest discomfort, palpitations, and swelling in the lower limbs (pedal edema). On physical examination, notable precordial signs may include a loud and palpable second heart sound, right ventricular heave, pulmonary ejection click, and murmurs associated with pulmonary and tricuspid valve regurgitation. These clinical features reflect the strain placed on the right side of the heart due to elevated pressure in the pulmonary arteries.

Familial Primary Pulmonary Hypertension (FPPH) Diagnosis and Treatment Overview

FPPH is diagnosed through a combination of clinical evaluation, imaging, and genetic testing. An echocardiogram, a noninvasive ultrasound of the heart is commonly used to screen for PAH, although it may be costly and not always accurate. Right heart catheterization provides a direct measurement of pulmonary artery pressure and is considered the gold standard. Blood tests help rule out other conditions and assess overall health. Genetic testing, particularly for BMPR2 mutations found in about 80% of affected families, can identify at-risk relatives but does not detect current symptoms. If the specific mutation in a family is unknown, DNA from an affected member may be needed. Treatment includes medications that relax pulmonary blood vessels and reduce pressure, supplemental oxygen for low oxygen levels, and lifestyle changes such as regular exercise and a balanced diet. These strategies aim to manage symptoms, slow disease progression, and improve quality of life.

Familial Primary Pulmonary Hypertension (FPPH) Epidemiology

The epidemiology section of the FPPH market report offers information on the patient populations, including historical and projected trends for each of the 7MM. Examining Key Opinion Leader (KOL) views from physicians or clinical experts can assist in identifying the reasons behind historical and projected trends. The diagnosed patient pool, their trends, and the underlying assumptions are all included in this section of the report.

This section also presents the data with relevant tables and graphs, offering a clear and concise view of the prevalence of FPPH. Additionally, the report discloses the assumptions made during the analysis, ensuring data interpretation and presentation transparency. This epidemiological data is valuable for understanding the disease burden and its impact on the patient population across various regions.

Key Findings

• Approximately 6% of PAH cases in the Unites States can be attributed to familial or heritable forms, indicating a significant genetic component in a subset of patients. This statistic underscores the importance of genetic screening and family history evaluation in the diagnostic process, particularly when PAH presents without an identifiable secondary cause.
• In Germany, the prevalence of PAH is estimated at approximately 25.9 cases per million adults, underscoring its rarity and the importance of early detection and timely management.
• In Japan, PAH prevalence is estimated at 32 cases per million adults, reflecting the rarity of the condition yet underscoring its clinical significance. This highlights the importance of strengthening genetic research, improving early diagnostic tools, and expanding disease awareness to ensure timely intervention and better outcomes for patients.

Familial Primary Pulmonary Hypertension (FPPH) Market Outlook

The FPPH therapeutics market is further expected to increase by the major drivers, such as the rising prevalent population, technological advancements, and upcoming therapies in the forecast period (2025-2034).

The treatment landscape for FPPH has advanced considerably, focusing on therapies that reduce pulmonary vascular resistance, improve exercise capacity, and delay disease progression. Traditional first-line management includes supportive measures such as oxygen therapy, diuretics, and anticoagulation in select patients. Over time, targeted pharmacological therapies have become central, including endothelin receptor antagonists e.g., OPSUMIT (macitentan) by Johnson & Johnson, prostacyclin analogs and receptor agonists e.g., ORENITRAM (treprostinil) by United Therapeutics), and PDE5 inhibitors. More recently, novel agents like WINREVAIR (sotatercept-csrk) by Merck have introduced a new mechanism of action, offering promising outcomes by addressing vascular remodeling. Combination therapy is now standard for many patients, aiming to optimize efficacy and improve long-term survival. Despite progress, treatment remains lifelong and palliative rather than curative, and ongoing research continues to explore genetic insights, early intervention strategies, and innovative drug classes to better meet the needs of this rare patient population.

With ongoing research and continued dedication, the future holds hope for even more effective treatments and, ultimately, a cure for this challenging condition. According to DelveInsight, the FPPH market in the 7MM is expected to change significantly during the forecast period (2025-2034).

Familial Primary Pulmonary Hypertension (FPPH) Drug Chapters

Marketed Drugs

WINREVAIR (sotatercept-csrk): Merck

WINREVAIR (SOTATERCEPT-CSRK) is a first-in-class fusion protein therapy that targets the transforming growth factor-beta (TGF-B) superfamily pathway, which plays a central role in vascular remodeling in PAH. By acting as a ligand trap for activing and Growth Differentiation Factors (GDFs), WINREVAIR restores the balance between pro-proliferative and anti-proliferative signaling in pulmonary vascular cells. This rebalancing reduces abnormal vascular remodeling, improves pulmonary vascular resistance, and enhances right heart function. Through its novel mechanism, WINREVAIR offers a disease-modifying approach that goes beyond symptomatic relief, providing meaningful improvements in exercise capacity, functional class, and long-term outcomes for patients with PAH, including familial forms.

• In March 2024, Merck reported that the US Food and Drug Administration (FDA) had approved WINREVAIR (sotatercept-csrk), a first-in-class treatment for adults with PAH, WHO Group 1.

OPSUMIT (macitentan): Johnson & Johnson

OPSUMIT (macitentan) is an orally active dual endothelin receptor antagonist developed by Johnson & Johnson for the treatment of PAH. It selectively blocks endothelin receptors ETA and ETB, thereby counteracting the effects of endothelin-1, a potent vasoconstrictor and promoter of vascular smooth muscle proliferation. By inhibiting this pathway, OPSUMIT reduces vasoconstriction, limits vascular remodeling, and improves pulmonary hemodynamics. Unlike earlier endothelin receptor antagonists, macitentan was designed with enhanced tissue penetration and sustained receptor binding, leading to improved efficacy and tolerability. Clinical studies have demonstrated that OPSUMIT delays disease progression, lowers the risk of hospitalization, and enhances long-term outcomes, making it a cornerstone oral therapy for PAH, including familial forms.

• In March 2015, Nippon Shinyaku & Actelion Pharmaceuticals reported the launch of OPSUMIT (macitentan) 10 mg tablets in Japan for the treatment of PAH.
• In October 2013, Actelion Pharmaceuticals reported that the US FDA had approved OPSUMIT (macitentan) for the treatment of PAH.
• In June 2017, Johnson & Johnson reported the completion of its acquisition of Actelion for approximately USD 30 billion in cash, with Actelion becoming part of the Janssen Pharmaceutical Companies of Johnson & Johnson.

ORENITRAM (treprostinil): United Therapeutics

ORENITRAM (TREPROSTINIL) is an oral prostacyclin analogue therapy that targets the prostacyclin (IP) receptor pathway, which is critical in regulating vascular tone and inhibiting smooth muscle proliferation in PAH. By directly stimulating the IP receptor, ORENITRAM promotes vasodilation of pulmonary and systemic arteries, reduces pulmonary vascular resistance, and inhibits platelet aggregation and vascular remodeling. This dual action helps improve blood flow, alleviate symptoms, and slow disease progression. Through its oral formulation, ORENITRAM provides a convenient alternative to parenteral prostacyclin therapies, supporting long-term disease management. By improving exercise capacity, functional outcomes, and overall quality of life, ORENITRAM plays an essential role in the treatment of patients with PAH, including those with familial forms.

• In December 2013, United Therapeutics reported that the US FDA had approved ORENITRAM (treprostinil) extended-release tablets for the treatment of PAH in WHO Group I patients to improve exercise capacity.

Emerging Drugs

Seralutinib: Gossamer Bio

Seralutinib is an investigational inhaled PDGFR, CSF1R, and c-KIT kinase inhibitor being developed for the treatment of PAH. By selectively blocking key growth factor signaling pathways that drive vascular remodeling, inflammation, and smooth muscle proliferation in the pulmonary arteries, seralutinib aims to reverse disease progression at the vascular level. Delivered via dry powder inhalation, it directly targets the lungs, maximizing local therapeutic effects while minimizing systemic exposure. This mechanism positions seralutinib as a potential disease-modifying therapy that could improve outcomes and provide a convenient, targeted treatment option for patients with PAH.

• In June 2025, Gossamer Bio reported the completion of enrollment in its registrational Phase III PROSERA study evaluating seralutinib for the treatment of PAH.
• In fourth quarter of 2025, Gossamer Bio is expected to report topline data from the Phase III PROSERA study evaluating seralutinib for the treatment of PAH, which, if successful, could support a potential regulatory filing.
• Currently, seralutinib is in Phase III for the treatment of group 1 PAH.

Ralinepag: United Therapeutics

Ralinepag, developed by United Therapeutics, is an oral selective prostacyclin receptor (IP receptor) agonist designed to address PAH by promoting vasodilation, inhibiting smooth muscle cell proliferation, and reducing vascular remodeling. By mimicking the effects of endogenous prostacyclin, ralinepag aims to improve pulmonary hemodynamics, enhance exercise capacity, and provide long-term clinical benefits for patients living with PAH.

• In June 2025, United Therapeutics Corporation reported the completion of enrollment in the Phase III ADVANCE OUTCOMES study evaluating RALINEPAG for the treatment of PAH.
• United Therapeutics Corporation stated that the ADVANCE OUTCOMES study will continue to accrue clinical worsening events through the end of 2025, with topline data anticipated in the first half of 2026.
• Currently, ralinepag is in Phase III for the treatment of group 1 PAH.

Familial Primary Pulmonary Hypertension (FPPH) Market Segmentation

DelveInsight's 'Familial Primary Pulmonary Hypertension (FPPH) - Market Insights, Epidemiology, and Market Forecast - 2034' report provides a detailed outlook of the current and future FPPH market, segmented within countries, by therapies, and by classes. Further, the market of each region is then segmented by each therapy to provide a detailed view of the current and future market share of all therapies.

Familial Primary Pulmonary Hypertension (FPPH) Market Size by Countries

The FPPH market size is assessed separately for various countries, including the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan. In 2024, the United States held a significant share of the overall 7MM FPPH market, primarily attributed to the country's higher prevalence of the condition and the elevated cost of the available treatments. This dominance is projected to persist, especially with the potential early introduction of new products.

Familial Primary Pulmonary Hypertension (FPPH) Drugs Uptake

This section focuses on the sales uptake of potential FPPH drugs that have recently been launched or are anticipated to be launched in the FPPH market between 2020 and 2034. It estimates the market penetration of FPPH drugs for a given country, examining their impact within and across classes and segments. It also touches upon the financial and regulatory decisions contributing to the probability of success (PoS) of the drugs in the FPPH market.

The emerging FPPH therapies are analyzed based on various attributes such as safety and efficacy in randomized clinical trials, order of entry and other market dynamics, and the unmet need they fulfill in the FPPH market.

Familial Primary Pulmonary Hypertension (FPPH) Market Access and Reimbursement

DelveInsight's 'Familial Primary Pulmonary Hypertension (FPPH) - Market Insights, Epidemiology, and Market Forecast - 2034' report provides a descriptive overview of the market access and reimbursement scenario of FPPH. This section includes a detailed analysis of the country-wise healthcare system for each therapy, enlightening the market access, reimbursement policies, and health technology assessments.

Key Opinion Leader (KOL) Views

To keep up with current FPPH market trends and fill gaps in secondary findings, we interview KOLs and SMEs' working in the FPPH domain. Their opinion helps understand and validate current and emerging therapies and treatment patterns or FPPH market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the FPPH unmet needs.

Familial Primary Pulmonary Hypertension (FPPH): KOL Insights

DelveInsight's analysts connected with 20+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as, Johns Hopkins, US; Private University of Applied Sciences, Germany; Paris-Sud University, France; University of Naples, Italy; Hospital Clinic de Barcelona, Spain; Respiratory Research & Development, UK; and Keio University School of Medicine, Japan; among others.

As per KOL from the US, "FPPH remains a rare but devastating condition with significant unmet medical needs. Addressing it requires continued investment in genetic screening, earlier diagnosis, and broader access to advanced therapies. A proactive, multidisciplinary approach is essential to change the trajectory of this life-threatening disease."

As per KOL from the UK, "Despite advances in treatment, many patients with FPPH continue to face poor long-term outcomes. Delayed diagnosis, limited therapeutic options, and the progressive nature of the disease remain major hurdles. Multidisciplinary management and investment in innovation are critical to improving survival and quality of life for patients with FPPH."

As per KOL from Japan, "Without timely recognition and intervention FPPH progresses silently, leading to severe pulmonary vascular damage, right heart failure, and increased mortality. Prolonged undiagnosed or untreated disease-especially in young adults-significantly worsens long-term outcomes. Early genetic screening, accurate diagnosis, and sustained management are essential to slow disease progression and improve survival in patients with FPPH."

Competitive Intelligence Analysis

We conduct a Competitive and Market Intelligence analysis of the FPPH. Market, utilizing various competitive intelligence tools such as SWOT analysis and Market entry strategies. The inclusion of these analyses is contingent upon data availability, ensuring a comprehensive and well-informed assessment of the market landscape and competitive dynamics.

Familial Primary Pulmonary Hypertension (FPPH) Pipeline Development Activities

The report offers an analysis of therapeutic candidates in Phase II and III stages and examines companies involved in developing targeted therapeutics for FPPH. It provides valuable insights into the advancements and progress of potential treatments in clinical development for this condition.

Pipeline Development Activities

The report covers information on collaborations, acquisition and merger, licensing, patent details, and other information for emerging FPPH therapies.

Familial Primary Pulmonary Hypertension (FPPH) Report Insights

• FPPH Patient Population
• Therapeutic Approaches
• FPPH Pipeline Analysis
• FPPH Market Size and Trends
• FPPH Market Opportunities
• Impact of Upcoming Therapies

Familial Primary Pulmonary Hypertension (FPPH) Report Key Strengths

• 10 Years Forecast
• The 7MM Coverage
• FPPH Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed FPPH Market
• FPPH Drugs Uptake

Familial Primary Pulmonary Hypertension (FPPH) Report Assessment

• FPPH Current Treatment Practices
• Unmet Needs
• FPPH Product Profiles
• FPPH Market Attractiveness

Key Questions:

• How common is FPPH?
• What are the key findings of FPPH epidemiology across the 7MM, and which country will have the highest number of patients during the study period (2020-2034)?
• What are the currently available treatments for FPPH?
• What are the disease risk, burden, and unmet needs of FPPH?
• At what CAGR is the FPPH market and its epidemiology is expected to grow in the 7MM during the forecast period (2025-2034)?
• How would the unmet needs impact the FPPH market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of FPPH in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan?
• Among EU4 and the UK, which country will have the highest number of patients during the forecast period (2025-2034)?
• How many companies are currently developing therapies for the treatment of hyperlipidemia?

Reasons to buy:

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the FPPH market.
• 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 the existing market opportunity in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of current treatment in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the attribute analysis section to provide visibility around leading classes.
• Highlights of market access and reimbursement policies of approved therapies, barriers to accessibility of off-label expensive therapies, and patient assistance programs.
• To understand the perspective of KOL around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.

Frequently Asked Questions:

1. What are the treatment goals for FPPH?

The primary treatment goals for FPPH are to reduce pulmonary vascular resistance and improve blood flow through the lungs, thereby lowering strain on the right side of the heart. This includes preventing disease progression, right heart failure, and premature mortality. Treatment aims to enhance exercise capacity, improve functional class, and slow pulmonary vascular remodeling. Achieving these goals involves timely initiation of targeted therapies, adherence to treatment, lifestyle modifications, and regular monitoring to maintain long-term cardiopulmonary stability and improve survival.

2. What are the challenges in managing FPPH?

Managing FPPH presents several challenges, including delayed diagnosis due to its rarity and non-specific symptoms, which often leads to advanced disease at presentation. Patient adherence to lifelong therapies can be difficult, especially as treatments focus on symptom control rather than cure. Genetic predisposition limits responsiveness to standard therapies, and disease progression remains unpredictable. Side effects from long-term medications, along with the need for complex treatment regimens, add to the burden. Regular monitoring and individualized care are essential, but access to specialized centers and advanced therapies can be limited, making consistent management difficult across populations.

3. What are the key factors driving the growth of the FPPH market?

Key factors driving FPPH market growth include increasing awareness of PAH and its heritable forms, advances in targeted therapies such as endothelin receptor antagonists, prostacyclin analogs, and novel agents like sotatercept and ralinepag. Early genetic screening, improved diagnostic capabilities, and better disease monitoring are expanding patient identification. Supportive healthcare policies, rising investment in rare disease research, and growing access to specialized treatment centers further fuel market growth. Additionally, the progressive nature of FPPH and unmet medical needs drive demand for innovative and disease-modifying therapies.

4. How will the FPPH market and epidemiology forecast report benefit the clients?

The FPPH market and epidemiology forecast report offers clients strategic insights into disease prevalence, patient segmentation, and market dynamics. It helps identify commercial opportunities, assess treatment gaps, and support planning for product development, market entry, or expansion. The report also aids stakeholders in understanding regulatory landscapes, forecasting trends, and making data-driven investment or policy decisions.