Spot Dx — Can you spot the cause of this bruising?
Tim is a 28-year-old security shift worker who presents with a month of fatigue and bilateral leg pain.
In the past week, he has developed a “weird spotty” rash on his legs and leg bruising, with no recollection of trauma. His leg hairs are also unusually curly (pictured).
Tim is otherwise well, takes no medications and does not smoke or drink alcohol. He works long hours, saving for a home deposit, and often takes double or triple shifts. As a result, his diet is limited to what he can access and prepare at work — namely, coffee, toast, macaroni cheese, two-minute noodles and tinned tuna.
His weight is stable, and he has had no associated fever or night sweats. He had pathology last week, which showed a microcytic anaemia with normal white cell and platelet counts, low ferritin and normal CRP, EUC and LFT.
On examination, the only significant findings are a generalised petechial rash, gingivitis and the lower-limb features pictured.
Correct!
The answer is a. Unlike many other animals, humans cannot produce endogenous vitamin C via glucose metabolism. This water-soluble vitamin is vital for wound healing, immune function, neurotransmitter production, nitric oxide synthesis, osteoblast and fibroblast growth and to maintain the triple helical structure of collagen. Vitamin C also acts as a reducing agent for production of vitamin E, folic acid, iron and copper, which can lead to or compound the multiple vitamin deficiencies that are often seen in association with scurvy.1
In the human diet, 90% of vitamin C comes from citrus fruit and vegetables, such as sweet peppers, broccoli, cauliflower and tomatoes. Since the 1970s, the Western diet has changed dramatically, with increased availability and intake of potatoes, pizzas and carbonated drinks. In some groups, this has been associated with a reduced intake of fruits, vegetables and dairy products. Those at high risk for scurvy in the modern world include people who are prone to malnutrition via limited diet or restrictive eating (eg, lower socioeconomic status, food insecurity, psychiatric illness, disordered eating, alcohol dependence), those with limited food access (eg, elderly living alone, homelessness) or those with malabsorptive states (eg, gastric bypass, coeliac disease).1-3 The estimated prevalence of vitamin C deficiency in the US is 7.1%.1 In Australia, ABS data from 2011 to 2012 found that fewer than 5% of the population had inadequate intake of vitamin C, and an observational study involving medical inpatients at an urban tertiary hospital found that 76.5% were vitamin C deficient.2
Overt scurvy develops within 40-90 days of sustained hypovitaminosis C, but manifestations can appear within 30 days of dietary insufficiency.1 Typical initial symptoms include weakness, arthralgias, myalgias and fatigue, especially in the upper legs and thighs. The subsequent stages may present with depression, follicular hyperkeratosis, poor wound healing, corkscrew hair and swollen gums. Later stages involve haemorrhagic features, like ecchymoses, perifollicular haemorrhage, petechiae, haemarthrosis and haemopericardium.1 The diagnosis is confirmed by plasma or serum ascorbic acid level testing.1-3 With appropriate treatment, constitutional symptoms may improve within 24 hours, skin manifestations within a few days and musculoskeletal symptoms within two weeks.1
In this case, the patient has an undetectable vitamin C level of <5µmol/L (normal: 40–100). He was also deficient in vitamin B12 and folic acid, with normal coeliac serology.2 These vitamin and mineral deficiencies corrected and all symptoms resolved within one month following supplementation with oral vitamin C 1g daily, elemental iron 210mg daily, folic acid 1mg daily and IM hydroxocobalamin.
What is the most likely diagnosis?
Tim is a 28-year-old security shift worker who presents with a month of fatigue and bilateral leg pain.
In the past week, he has developed a “weird spotty” rash on his legs and leg bruising, with no recollection of trauma. His leg hairs are also unusually curly (pictured).
Tim is otherwise well, takes no medications and does not smoke or drink alcohol. He works long hours, saving for a home deposit, and often takes double or triple shifts. As a result, his diet is limited to what he can access and prepare at work — namely, coffee, toast, macaroni cheese, two-minute noodles and tinned tuna.
His weight is stable, and he has had no associated fever or night sweats. He had pathology last week, which showed a microcytic anaemia with normal white cell and platelet counts, low ferritin and normal CRP, EUC and LFT.
On examination, the only significant findings are a generalised petechial rash, gingivitis and the lower-limb features pictured.