Seropositive rheumatoid arthritis in a female patient with sensory neuropathy

The patient, a 38-year-old Korean woman, presented with a 6-month history of arthralgia involving the hands, wrists, feet, and shoulders. She also complained of joint swelling, warmth, tenderness, and morning stiffness lasting longer than 30 minutes. Her symptoms showed an insufficient response to analgesics prescribed at a local clinic. Her hands and feet had been badly mutilated and revealed an ainhum-like feature (Fig. 1A). She had a loss of sensation affecting the peripheral limbs, and repetitive inflammation and ulcerations of the fingers and toes had developed since was she was 11 years old, leading to spontaneous amputation of the digits. Autonomic disturbances such as hyperhidrosis, urinary incontinence, and a slow pupillary reaction to light were not definite. The patient indicated that her brother, who was her only sibling, suffered from similar problems. Radiography of the hands revealed resorption of the distal phalanges with a small stump at the proximal phalanx in all fingers and joint space narrowing of the metacarpophalangeal and radiocarpal joints (Fig. 1B). Hot hand and wrist joint uptake was observed in a bone scan (Fig. 1C). Laboratory testing produced the following results: rheumatoid factor, 28.2 IU/mL; anticyclic citrullinated peptide antibodies, > 300 U/mL; negative for antinuclear antibodies; erythrocyte sedimentation rate, 45 mm/hr; and C-reactive protein, 4.13 mg/dL. The result of a nerve conduction test was compatible with distal symmetric peripheral polyneuropathy, mainly sensory, involving the whole limb. Although molecular genetic testing was not performed, the patient was clinically presumed to have hereditary sensory and autonomic sensory neuropathy type II, which occurs sporadically or with autosomal recessive inheritance and is known to have no sex preference. The patient was also confirmed to have seropositive rheumatoid arthritis. Considering the importance of environmental factors, we cannot exclude the possibility that chronic remitting inflammation and ulceration of the digits contributed to an immunologic perturbation leading to rheumatoid arthritis.

Figure 1

(A) Hands are badly mutilated and look like an ainhum. (B) Radiography of hands reveals that resorption of distal phalanges with a small stump of the proximal phalanx in all fingers and joint space narrowing of metacarpophalangeal and radiocarpal joints. (C) In bone scan, multiple hot spots are noted in hand and wrist joints.