Overlapping Symptoms: Why Scurvy is Often Confused
Scurvy presents a constellation of symptoms resulting from impaired collagen synthesis due to a severe, prolonged vitamin C deficiency. The key reason for misdiagnosis is that these symptoms are not unique to scurvy alone. Many other conditions can cause fatigue, musculoskeletal pain, easy bruising (purpura), and gum disease, creating a complex clinical picture for physicians. The specific physical signs of scurvy, such as perifollicular hemorrhages and corkscrew hairs, are strong clues, but they may be overlooked in favor of more common diagnoses. A patient presenting with general malaise, joint pain, and bleeding gums might initially be tested for common issues, delaying the correct diagnosis and highlighting the need to consider scurvy, especially in at-risk populations.
Autoimmune Diseases and Vasculitis
Several autoimmune and inflammatory conditions can present with symptoms strikingly similar to scurvy, primarily due to their systemic effects on blood vessels and connective tissues.
Systemic Lupus Erythematosus (SLE) and Sjögren's Syndrome
Patients with autoimmune diseases like SLE and Sjögren's can experience fatigue, joint pain (arthralgia), and vasculitic skin rashes that resemble scurvy's mucocutaneous manifestations. In fact, cases have been reported where scurvy was the initial misdiagnosis for children with SLE. Sjögren's syndrome can also cause a dry mouth and dry eyes, which may overlap with features seen in scurvy. Diagnostic confusion can arise without a thorough dietary and developmental history.
Hypersensitivity Vasculitis
This condition involves inflammation of small blood vessels, leading to palpable purpura, petechiae, and skin lesions that are often indistinguishable from the skin hemorrhages seen in scurvy. Both conditions involve fragile blood vessels, but the underlying pathology is entirely different, requiring a careful differential workup.
Hematologic and Oncologic Disorders
Disorders affecting the blood and bone marrow are critical mimickers of scurvy, as they can cause bleeding tendencies and systemic fatigue.
Leukemias and Aplastic Anemia
Acute lymphoblastic leukemia (ALL) and aplastic anemia are particularly concerning because they can present with pancytopenia and bleeding abnormalities, including petechiae, purpura, and easy bruising. Pediatric patients with these conditions may also experience bone pain, a symptom that overlaps with scurvy's musculoskeletal effects. The link between vitamin C and hematopoiesis means some patients may have concurrent scurvy and blood disorders.
Immune Thrombocytopenic Purpura (ITP)
ITP is an autoimmune disorder causing a low platelet count (thrombocytopenia), which results in increased bruising and bleeding. These symptoms can closely mirror those caused by the connective tissue fragility in scurvy, making a platelet count a crucial diagnostic test.
Genetic and Connective Tissue Disorders
Certain inherited conditions directly impact the body's collagen and connective tissue, mimicking scurvy's pathology at a genetic level.
Ehlers-Danlos Syndrome (EDS)
This group of inherited disorders affects connective tissues, leading to symptoms like overly flexible joints (hypermobility), stretchy skin, and fragile blood vessels that bruise easily. The severe bruising in some EDS types, like classic EDS, can closely resemble scurvy's skin manifestations. Interestingly, high-dose vitamin C is sometimes used for EDS patients to aid collagen synthesis, highlighting the symptomatic overlap.
Osteogenesis Imperfecta
Known as brittle bone disease, osteogenesis imperfecta is a genetic disorder affecting collagen production, leading to fragile bones and frequent fractures. The bony changes and pain can mimic the subperiosteal hemorrhages and painful joints found in infantile scurvy, and can even be mistaken for child abuse.
Comparison Table: Scurvy vs. Its Mimickers
| Feature | Scurvy | Hematologic Malignancies (e.g., Leukemia) | Ehlers-Danlos Syndrome (EDS) | Vasculitis | Chronic Non-infectious Osteomyelitis (CNO) |
|---|---|---|---|---|---|
| Etiology | Severe Vitamin C deficiency | Abnormal blood cell production in bone marrow | Inherited genetic defect affecting collagen | Inflammation of blood vessels | Inflammatory bone process, often associated with IBD |
| Key Diagnostic Clue | Rapid response to vitamin C supplementation, dietary history | Pancytopenia, bone marrow biopsy results | Joint hypermobility, family history, genetic testing | Palpable purpura, tissue biopsy findings | Bony pain, associated with inflammatory bowel disease |
| Bleeding Gums | Common | Can occur due to low platelets | Less common | Possible, but not a primary feature | No |
| Poor Wound Healing | Very common | Can occur due to compromised immunity | Common due to collagen defects | Possible due to impaired circulation | Not a defining feature |
| Musculoskeletal Pain | Common, especially in lower limbs | Common, often bone pain | Common, often joint pain/dislocations | Common, often arthralgia | Bony pain is a key symptom |
| Skin Features | Perifollicular hemorrhages, corkscrew hairs | Petechiae, purpura | Easy bruising, velvety skin | Palpable purpura, petechiae | No specific skin rash, may have swelling over bones |
Other Nutritional and Medical Conditions
- Other Vitamin Deficiencies: Deficiencies in vitamins K and D can cause symptoms that overlap with scurvy. Vitamin K deficiency can lead to bleeding, while vitamin D deficiency (rickets) affects bone development, especially in children.
- Inflammatory Bowel Disease (IBD): Conditions like Crohn's disease can lead to malabsorption, making a person susceptible to scurvy. Additionally, CNO, sometimes associated with IBD, can cause bony pain that mimics scurvy.
- Chronic Infections: Rare systemic infections like meningococcemia and Rocky Mountain spotted fever can cause petechiae and purpura that may look like scurvy.
- Medication Side Effects: Certain long-term medications, including some corticosteroids and proton pump inhibitors, can impair the body's absorption or use of vitamin C, leading to deficiency symptoms.
The Critical Role of Dietary History and Diagnosis
Given the wide array of conditions that mimic scurvy, the diagnostic process must be thorough. Taking a detailed dietary history is often the most important first step, as it can reveal limited intake of fresh fruits and vegetables. A low serum ascorbic acid (vitamin C) level below $0.2 ext{ mg/dL}$ is confirmatory, though levels can fluctuate with recent intake. Perhaps most telling is the rapid clinical improvement observed after initiating vitamin C supplementation, which effectively rules out other, more severe pathologies. A high index of suspicion, especially in at-risk individuals with restrictive eating habits, is key to avoiding unnecessary invasive procedures like bone marrow biopsies. For more information on the diagnostic challenges of scurvy, see this case report on a young patient with a restrictive diet: Scurvy Mimicking as Systemic Lupus Erythematosus.
Conclusion
Scurvy, while a treatable nutritional deficiency, can be a master of disguise, masking itself as various autoimmune, hematologic, and genetic disorders. Its common symptoms of fatigue, bleeding gums, joint pain, and skin lesions can lead to costly and delayed diagnoses if not carefully evaluated. A comprehensive patient history, particularly regarding diet, is a critical initial step. When suspicion is high, a simple, non-invasive treatment with vitamin C can not only resolve the issue quickly but also confirm the diagnosis, preventing misdirected treatment for more serious conditions. Awareness of these common mimickers is vital for healthcare professionals to ensure patients receive timely and appropriate care.