Anemia, Interosseous-Intramuscular Bleeding Cause Delayed SM Diagnosis – Hematology Advisor

Report on a Case of Systemic Mastocytosis: Implications for Sustainable Development Goal 3

Introduction: Addressing Non-Communicable Diseases

A recent case report on a patient with KIT-negative systemic mastocytosis (SM) underscores the diagnostic challenges that impede the progress of Sustainable Development Goal 3 (SDG 3), particularly Target 3.4, which aims to reduce premature mortality from non-communicable diseases (NCDs). The atypical presentation of this rare disease resulted in significant diagnostic delays, highlighting the need for strengthened healthcare capacity to ensure good health and well-being for all.

Case Chronology and Diagnostic Pathway

The patient, a 42-year-old woman, experienced a protracted and complex diagnostic journey, which poses a challenge to the principles of timely and effective care outlined in SDG 3.

1. Initial Presentation: The patient was admitted with severe anemia (hemoglobin, 5.7 g/dL) and abdominal pain. Imaging revealed hepatosplenomegaly and significant intraosseous and intramuscular hemorrhage.
2. Interim Period: Despite extensive investigations, no definitive diagnosis was made. The patient was empirically treated for infectious myositis and discharged, as other hematologic parameters appeared normal.
3. Recurrent Presentations: Over the subsequent weeks, the patient presented multiple times with a range of symptoms, including hemoptysis, ear pain, chest pain, skin rashes, and generalized fatigue.
4. Diagnostic Breakthrough: Clinical suspicion of mastocytosis was raised following a bone marrow biopsy that showed extensive necrosis and an indicative axilla biopsy. A subsequent full bone marrow biopsy, combined with peripheral blood studies and elevated serum tryptase levels, confirmed the diagnosis of SM.

Challenges in Achieving SDG Target 3.4: Management of NCDs

The diagnostic difficulty in this case, especially due to the absence of the common KIT D816V mutation, illustrates a critical barrier to managing NCDs effectively. A delayed diagnosis for conditions like SM directly impacts patient outcomes and complicates efforts to reduce premature mortality.

• Nonspecific Symptoms: The patient’s varied and nonspecific symptoms delayed accurate diagnosis, a common issue with rare diseases that complicates their management under the NCD umbrella.
• Diagnostic Requirements: The case demonstrates that achieving an accurate diagnosis for KIT-negative SM requires a multimodal approach, including specialized tests like bone marrow biopsies, serum tryptase measurement, and mutation analysis. This necessity highlights the need for advanced diagnostic infrastructure to meet SDG 3 targets.

Implications for SDG Target 3.8: Universal Health Coverage

This case serves as a powerful example of the complexities involved in achieving universal health coverage (UHC), which includes access to quality essential healthcare services and affordable, effective medicines. The patient’s journey through the healthcare system before receiving a definitive diagnosis and targeted therapy underscores the importance of robust health systems capable of managing complex and rare conditions.

• Access to Quality Care: The eventual diagnosis and initiation of disease-specific therapies, including avapritinib, montelukast, and prednisone, represent the type of quality, essential healthcare service that UHC aims to provide.
• System Strengthening: To ensure UHC encompasses rare diseases, health systems must be strengthened to support early recognition and comprehensive testing, thereby preventing diagnostic delays and improving patient well-being. This aligns with SDG Target 3.d, which calls for strengthening national capacity for early warning and health risk management.

Which SDGs are addressed or connected to the issues highlighted in the article?

SDG 3: Good Health and Well-being

• The entire article is centered on health issues, specifically the diagnosis and management of a rare, non-communicable disease (systemic mastocytosis). It details a patient’s journey through the healthcare system, highlighting challenges related to diagnosis and the importance of effective treatment to improve quality of life and manage severe symptoms like anemia and hemorrhage. This directly aligns with the core objective of SDG 3 to ensure healthy lives and promote well-being for all at all ages.

What specific targets under those SDGs can be identified based on the article’s content?

1. Target 3.4: By 2030, reduce by one-third premature mortality from non-communicable diseases through prevention and treatment and promote mental health and well-being.

   The article discusses systemic mastocytosis, a non-communicable disease (NCD). The case study emphasizes the critical need for timely diagnosis and treatment (“Disease-specific therapies were initiated, including avapritinib, montelukast, and prednisone”) to manage the condition and prevent severe, potentially life-threatening complications. The patient’s suffering from “severe anemia,” “pain,” and “generalized fatigue” also relates to the well-being aspect of this target.

2. Target 3.8: Achieve universal health coverage, including financial risk protection, access to quality essential health-care services and access to safe, effective, quality and affordable essential medicines and vaccines for all.

   The patient’s experience underscores the importance of access to quality and comprehensive healthcare services. She underwent “extensive investigations,” multiple hospital visits, and required highly specialized diagnostic procedures like “bone marrow biopsy,” “serum tryptase measurement,” and “KIT mutation analysis.” The article implicitly advocates for a healthcare system that provides these services. Furthermore, the initiation of “disease-specific therapies” like avapritinib points directly to the need for access to effective and quality medicines.

3. Target 3.d: Strengthen the capacity of all countries… for early warning, risk reduction and management of national and global health risks.

   The central theme of the article is the challenge of delayed diagnosis for a rare disease. The text states, “Atypical presentations in SM can result in diagnostic delays, complicating management.” The call for “early recognition and comprehensive diagnostic testing” is a direct call to strengthen the capacity of the healthcare system to provide early warning and manage complex health risks, even at the individual level. The diagnostic delay represents a weakness in this capacity.

Are there any indicators mentioned or implied in the article that can be used to measure progress towards the identified targets?

1. Time from symptom onset to diagnosis

   The article heavily implies this as a key performance indicator. The patient’s diagnosis was significantly delayed (“Five months previously, she was admitted…”), which complicated her management. A reduction in the average time to diagnose rare diseases like SM would indicate progress towards Target 3.d (strengthening health system capacity).

2. Access to specialized diagnostic services

   Progress towards Target 3.8 can be measured by the availability and use of the specific tests mentioned as essential for diagnosis. The article lists “bone marrow biopsy, serum tryptase measurement, and KIT mutation analysis” as critical. The rate of utilization of these tests for patients with suspected mastocytosis would be a relevant indicator.

3. Access to effective and modern medicines

   The mention of specific, targeted therapies like “avapritinib” implies an indicator related to Target 3.8. The availability and coverage of such modern, disease-specific medicines within a health system can be used to measure access to quality healthcare and progress in treating NCDs (Target 3.4).

Summary Table of SDGs, Targets, and Indicators

Source: hematologyadvisor.com