Contributor: Deana Lazaro, MD and Richard Keating, MD
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A 28 year old woman comes to clinic for evaluation of diffuse pain. The patient complains of widespread myalgias and arthralgias for the past 3 months. The pain is aching in quality and is becoming severe. It interferes with her activities such as cleaning the house and shopping. She also complains of fatigue but has no difficulty with sleep or morning stiffness. A review of systems is negative for weight loss, fever, rash, paresthesias, weakness, joint swelling, and Raynaud's phenomenon. The patient does complain of dry skin and mild constipation.
The patient has no significant prior medical history and takes no medications, but she takes many over the counter vitamins and supplements.
The general medical examination is unremarkable. There is some tenderness on palpation of the joints and muscles but no joint swelling, warmth, or effusion. There is no rash and the neurologic examination is intact except for a delay in the relaxation phase of the deep tendon reflexes.
What is the differential diagnosis?
The differential diagnosis of diffuse arthralgias and myalgias includes the onset of an inflammatory rheumatic disease such as systemic lupus erythematosus or rheumatoid arthritis, a soft tissue syndrome such as fibromyalgia, somatization disorder or depression, endocrinopathy, infection such as a viral arthritis or Lyme disease, and toxic or drug reaction.
What tests may be helpful in making a diagnosis?
Despite the broad differential diagnosis, there are several clues to a specific diagnosis in the history and physical examination of this patient. Dry skin, constipation, fatigue, myalgias, and arthralgias are possible manifestations of hypothyroidism. Delayed relaxation phase of the deep tendon reflexes is also consistent with a diagnosis of hypothyroidism. Thyroid function tests should be requested. Other useful tests may include ESR, CBC, Chemistry, CPK, anti-nuclear antibody (ANA), and Rheumatoid Factor (RF).
A 65 year old woman comes to clinic for follow-up of results of a bone density screening. Review of dual-energy x-ray absorbtiometry (DEXA) results show that she has osteoporosis with T-scores and Z-scores at the femoral neck and lumbar spine below -2.5. You counsel her to avoid smoking and alcohol, perform regular weight-bearing exercise, and to take adequate calcium with vitamin D and to start an oral bisphophosphonate.
What else is appropriate for the management of this patient's metabolic bone disorder?
Ca=9.0 mg/dL (8.4-10.2 mg/dL)
Phosphorus=2.3 mg/dL (2.5-4.6 mg/dL)
TSH=1.9 µIU/ml (0.35-5.5)
Creatinine=2.0 mg/dL (0.4-1.2 mg/dL)
BUN=25 mg/dL (6-22 mg/dL)
Hemoglobin=12.0 g/dL (13-18 g/dL)
MCV=88 cmu (80-95 cmu)
Platelets=230,000 K/cmm (150-450,000 K/cmm)
ESR=90 mm/hr (0-20 mm/hr)
What is a likely cause for these findings? Would you order any additional tests?
What complication of her condition is the patient experiencing? How can you make the diagnosis?
The patient's history and physical findings suggest carpal tunnel syndrome. This disorder is associated with amyloidosis. Deposition of amyloid protein in the carpal tunnel may cause compressive neuropathy of the median nerve. AL variety of amyloidosis may complicate multiple myeloma. It is associated with carpal tunnel syndrome, arthropathy, periarthritis, and cystic bone disease.
Hematologic and Malignant Disorders
(Answer questions 1 – 5 on a piece a paper. Find Answer Key at the bottom on the page.)
1) Sarcoidosis can present with fever, hilar lymhphadenopathy, ankle swelling (arthritis and/or periarthritis), and erythema nodosum. Which of the following is true:
2) AL (immunoglobulin light chain) amyloidosis is a plasma cell disorder characterized by tissue deposition of monoclonal immunoglobulin light chains or fragments. Amyloid deposition in AL can involve the synovium. Presentations for AL amyloidosis may include all of the following except:
Hemochromatois can lead to manifestations in multiple organ systems, including the MSK system.
3) A clinically distinct form of arthropathy seen in hemochromatosis is:
Patients with autoimmune thyroid disease (AITD) includes chronic autoimmune thyroiditis (Hashimoto’s thyroiditis) and Grave’s disease.
4) The most common serologic abnormality not directed against thyroid tissue seen in this population of patients is:
5) The least common musculoskeletal manifestation of diabetes is which of the following:
1) The correct answer is A.
Lofgren’s syndrome (fever, hilar lymphadenopathy, ankle swelling, and erythema nodosum) has about 95% specificity for sarcoidosis. It is more common in Europeans than African-Americans. Lupus pernio is a distinctive rash of sarcoidosis, often seen about the nares, that is violaceous and may take the form of plaques or nodules. Heerdfordt syndrome, also called uveoparotid fever, consists of fever, uveitis, and parotitis with or without CN VII involvement. It is a relatively rare presentation for sarcoidosis. Koebner phenomenon can occur in sarcoidosis when sarcoid skin lesions develop on old scars or tattoos.
2) The correct answer is A.
AL amyloidosis can present with soft tissue involvement. This may take the form of carpal tunnel syndrome, a polyarthropathy, subcutaneous nodules that might resemble rheumatoid nodules, submandibular gland involvement, and macroglossia. A monoarthritis would be very extremely unusual.
3) The correct answer is B.
There is a predilection for the finger MCP joints, variably accompanied by chondrocalcinosis, in the arthropathy of hemochromatosis. It is a chronic and progressive arthropathy with a low-grade inflammation.
4) The correct answer is B.
Physicians should appreciate that a positive ANA is seen in almost 50% of patients with autoimmune thyroid disease (AITD) – a much higher prevalence than is seen in the general population and these patients do not usually have a classifiable rheumatic disorder.
5) The correct answer is D.
Diabetes can have a number of MSK manifestations. Limited hand mobility, also called diabetic cheiropathy, results from increased stiffness and thickening of the finger tendons. Adhesive capsulitis can affect 30% of diabetics and flexor tenosynovitis in the hands can affect 10-20% of patients. Charcot joint, also known as neuropathic arthritis, usually affects the foot, and is characterized by fracture, dislocation, and subluxation of the affected joint in the presence of a significant sensory deficit. A Charcot joint of the hand is distinctly unusual.
Last updated February 2015.