The Challenge of a Modern Diagnosis
While largely forgotten in modern developed countries, cases of scurvy, caused by severe vitamin C deficiency, continue to appear, especially among vulnerable populations. The infrequency of the disease means that many healthcare professionals have a low index of suspicion for it, leading to misdiagnoses. Scurvy's symptoms can mimic a wide range of more common or severe conditions, from inflammatory disorders to blood cancers. The multisystem nature of the disease, affecting skin, joints, bones, and blood, contributes to the diagnostic confusion. This makes a thorough dietary history the most critical tool for differentiation.
Musculoskeletal Mimics
One of the most confusing aspects of scurvy is its musculoskeletal presentation, which often leads to referral to a rheumatologist.
- Rheumatoid and Septic Arthritis: Joint pain (arthralgia) and swelling, particularly in the lower extremities, are common in scurvy. In children, this can manifest as a limp or refusal to walk, leading to misdiagnosis as Juvenile Idiopathic Arthritis or septic arthritis. The pain is caused by bleeding into the joint spaces and under the periosteum (the membrane covering the bones).
- Osteomyelitis: In children, bone pain and swelling, combined with elevated inflammatory markers often seen in scurvy, can be mistaken for osteomyelitis (bone infection). This can result in unnecessary and invasive testing or antibiotic treatment.
- Child Abuse: The bony pathology and subdermal bleeding caused by scurvy can, in rare cases, be confused with physical abuse, particularly in infants. The pseudoparalysis seen in infantile scurvy can be mistaken for neurological or traumatic injury.
Bleeding and Dermatological Impersonators
The bleeding tendencies in scurvy are caused by defective collagen synthesis, which weakens blood vessel walls. This can resemble various hematological and rheumatological conditions.
- Vasculitis: The presence of skin lesions like petechiae (small red dots) and ecchymoses (bruising) can cause a clinician to suspect vasculitis. However, scurvy-related purpura is non-inflammatory, which can be confirmed through a skin biopsy. A case study highlighted how a patient's scurvy mimicked vasculitis, both clinically and with certain lab findings, causing significant diagnostic delay.
- Clotting Disorders: Scurvy's easy bruising and extensive hemorrhages can look identical to those caused by clotting factor deficiencies, platelet dysfunction (e.g., Immune Thrombocytopenic Purpura), or Disseminated Intravascular Coagulation (DIC). However, scurvy does not affect the blood clotting process directly; rather, it relates to the integrity of the blood vessel walls.
- Folliculitis and Other Rashes: Perifollicular hemorrhage and corkscrew hairs are classic signs of scurvy, but can be overlooked or mistaken for other skin conditions. Bruising in isolation, without the more specific hair findings, can also make diagnosis challenging.
Hematological and Systemic Overlaps
Scurvy can also present with hematological features that confound diagnosis.
- Leukemia and Aplastic Anemia: In pediatric populations, scurvy has been shown to mimic hematological malignancies like leukemia and aplastic anemia. Scurvy can cause bone marrow hypo-cellularity and pancytopenia, findings that are characteristic of these more severe conditions. The physiological role of vitamin C in hematopoiesis means that a deficiency can directly impact blood cell production. This is particularly concerning as it may lead to unnecessary invasive procedures like bone marrow biopsies.
- Anemia: Fatigue and weakness are early symptoms of scurvy, often accompanied by anemia. Anemia can stem from a combination of blood loss from bleeding, iron malabsorption (vitamin C aids iron absorption), and the direct impact of the deficiency on hematopoiesis. Anemia is a non-specific symptom that can point to numerous causes, delaying the consideration of scurvy.
The Critical Role of Dietary History
Given the wide array of potential misdiagnoses, a detailed dietary history is often the most important diagnostic clue. Physicians should inquire about dietary restrictions in any patient presenting with unexplained symptoms, particularly those in at-risk groups, including:
- Children with developmental delays or autism on selective diets.
- Individuals with mental health conditions or eating disorders.
- People with chronic illnesses or conditions that cause malabsorption.
- Individuals with alcohol use disorders or food insecurity.
If scurvy is suspected, a plasma vitamin C test can confirm the deficiency, and supplementation with vitamin C will lead to rapid symptom improvement.
Comparison: Scurvy vs. Its Mimics
| Feature | Scurvy | Vasculitis | Rheumatoid Arthritis | Leukemia |
|---|---|---|---|---|
| Symptom Onset | Gradual, after weeks to months of poor intake. | Variable, can be acute or chronic. | Chronic, inflammatory joint pain. | Variable; can present acutely or gradually with fatigue. |
| Key Symptoms | Fatigue, joint pain, bleeding gums, perifollicular hemorrhages, corkscrew hairs. | Rash (purpura), joint pain, inflammation, organ-specific symptoms. | Symmetrical joint pain, stiffness, fatigue. | Fatigue, fever, easy bruising, bone/joint pain. |
| Bleeding | Due to defective blood vessel collagen, non-inflammatory. | Due to inflamed blood vessels, inflammatory. | Not a primary feature, but can be a side effect of medication. | Due to low platelets (thrombocytopenia). |
| Dietary History | Almost always involves a restricted or low vitamin C diet. | Not directly linked to a specific vitamin deficiency. | Not a primary cause, but diet can influence symptoms. | Not caused by diet, though some co-occurrence with vitamin C deficiency exists. |
| Inflammatory Markers | May be elevated but not a consistent feature. | Typically elevated. | Typically elevated (e.g., CRP, ESR). | Variable, but often elevated depending on the type. |
| Treatment | Vitamin C supplementation. | Immunosuppressants, steroids. | Anti-rheumatic drugs, steroids. | Chemotherapy, targeted therapy. |
Conclusion
The ability of scurvy to imitate numerous other diseases makes it a true diagnostic challenge. The varied symptoms—from fatigue and joint pain to bleeding and dental issues—can steer clinicians down the wrong diagnostic path, leading to expensive and unnecessary testing. By maintaining a high index of suspicion, especially in patients with a history of poor nutrition or restrictive diets, and considering a thorough dietary assessment, healthcare providers can accelerate the path to a correct and simple diagnosis. Ultimately, recognizing scurvy as a modern-day possibility, not just a historical ailment, is essential for improving patient outcomes and avoiding harmful misdiagnoses.
