A 43-year-old man comes to the office due to joint pain and stiffness in both hands for the past 6 months. He sometimes awakens with hand pain at night. Over the last year, the patient also has had chronic fatigue and poor sexual performance. He has no history of serious illness and takes no medications. The patient rarely sees a physician. He does not smoke tobacco or drink alcohol. Blood pressure is 126/80 mm Hg and pulse is 80/min. BMI is 25 kg/m². Hand radiographs reveal bilateral erosions and joint deformities involving the second and third metacarpophalangeal joints. Which of the following is the most likely diagnosis?

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11ec160b_3a5b_3550_9249_570764987053_MD0001_00 This patient has chronic arthritis, fatigue, and sexual dysfunction, which together suggest hereditary hemochromatosis (HH). HH is an autosomal recessive disease characterized by excessive gastrointestinal absorption of iron, which is then stored as hemosiderin in various tissues. Manifestations include liver disease, skin hyperpigmentation, diabetes mellitus, pituitary hormone deficiencies (eg, central hypogonadism), arthritis, and cardiomyopathy. HH-associated arthritis is thought to be caused by iron deposition in the articular cartilage and synovium, with subsequent free radical damage and crystal deposition. It typically involves the second and third metacarpophalangeal (MCP) joints (in contrast to osteoarthritis of the hands, which most often affects the proximal and distal interphalangeal joints and the first carpometacarpal joint). X-ray findings include characteristic deformities (eg, hook-like osteophytes) and deposition of calcium pyrophosphate dihydrate in the articular cartilage (chondrocalcinosis). (Choice A) Gouty arthritis may occasionally present as a chronic arthritis of the small joints of the hands and feet, superficially resembling rheumatoid arthritis. X-ray often shows associated bony erosions. However, most patients have a history of acute gout attacks, and gout would not explain this patient's fatigue and sexual dysfunction. (Choice C) Multiple myeloma usually occurs in older patients and is rare at age <50. Characteristic x-ray findings include scattered osteolytic lesions that typically involve the axial skeleton. (Choice D) Reactive arthritis typically presents with asymmetric oligoarthritis, enthesitis (ie, inflammation at tendon/ligament insertion sites), and dactylitis (ie, sausage digit). It is often associated with extraarticular symptoms, including conjunctivitis, uveitis, and urethritis. Symptoms usually resolve within a few months and would not be chronic. (Choice E) Rheumatic fever is an immune-mediated complication of streptococcal infections characterized by migratory arthritis, carditis, subcutaneous nodules, rash (erythema marginatum), and chorea. It is most common at age 5-15 and presents acutely 2-4 weeks after an episode of untreated pharyngitis. Educational objective: Hereditary hemochromatosis is an autosomal recessive disease characterized by excessive gastrointestinal absorption of iron, which is then stored as hemosiderin in various tissues. Secondary arthritis is common and typically involves the second and third metacarpophalangeal joints. Other manifestations include liver disease, skin hyperpigmentation, diabetes mellitus, pituitary hormone deficiencies (eg, central hypogonadism), and cardiomyopathy.

A 43-Year-Old Man Comes to the Office Due to Joint