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A 25-year-old woman presents to your office complaining of cold hands. She describes them turning white as she reaches for orange juice in the frozen food section of the supermarket. It seems to be getting worse lately. She has no other symptoms but does note that she and her husband are contemplating pregnancy.
Her examination today is unremarkable.

What condition is she describing?

  1. Carpal Tunnel syndrome
  2. Raynaud phenomenon
  3. subacute bacterial endocarditis with emboli
  4. SLE
  5. RA

Answer(s): B

Explanation:

Vasospasm severe enough to reduce flow and produce cyanosis after exposure to cold is called Raynaud phenomenon. Some make a further distinction between Raynaud syndrome when the phenomenon is associated with another systemic disorder and Raynaud disease when there is no established systemic process. Similarly, Raynaud phenomenon in the absence of a systemic illness may also be referred to as primary Raynaud phenomenon, and Raynaud in the presence of another systemic illness may be termed secondary Raynaud phenomenon. In this case, there is no evidence of another systemic illness. Clinical features suggesting SLE or RA are absent. Subacute bacterial endocarditis likewise would be expected to be associated with fever, which is absent in this patient. In addition, one would expect to see areas of necrosis either in the soft tissue (Janeway spots) or under the fingernails (splinter hemorrhages) were any kind of embolic phenomenon is present. (Harrison's Principles of Internal Medicine, 15th ed., pp. 1438- 1439)
Given the patient's age, it is reasonable to explore the possibility of an associated systemic illness. If one were present, basic laboratories such as blood count, urinalysis, and chemistries are important. ANAis a reasonable screening study in this case. It does have a prognostic value increasing the likelihood of the development of a systemic process in the future.

If positive, further serologic studies might then be helpful in establishing a more specific diagnosis. The arterial Doppler with cold stimulation can be a useful test in showing a marked drop in blood flow with cold exposure. Still, with such a classical description, it is hard to imagine how this test would be helpful either diagnostically or therapeutically. Antidouble-stranded DNA antibodies would establish the diagnosis of SLE. Likewise, the antiscleroderma antibodies (anti-Scl-70) would be a very important prognostic marker once the ANA is positive and certainly would occasion a rheumatic disease consultation. Patients with hypercoagulable states, including those with positive cardiolipin antibodies, can often mimic Raynaud's. Given that the patient wants to become pregnant, this would be an important study to obtain. Sjögren antibodies, both SSA and SSB, are important in this case because of the contemplated pregnancy. Sjögren antibodies can cross the placenta and create the syndrome of neonatal lupus (complete heart block, thrombocytopenia, and rash).



A 25-year-old woman presents to your office complaining of cold hands. She describes them turning white as she reaches for orange juice in the frozen food section of the supermarket. It seems to be getting worse lately. She has no other symptoms but does note that she and her husband are contemplating pregnancy. Her examination today is unremarkable. In this patient, which of the following studies would be most likely to describe an increased risk of future systemic disease?

  1. echocardiogram
  2. nerve conduction study
  3. ANA
  4. joint aspiration
  5. arterial Doppler of the upper limbs with cold stimulation

Answer(s): C

Explanation:

Vasospasm severe enough to reduce flow and produce cyanosis after exposure to cold is called Raynaud phenomenon. Some make a further distinction between Raynaud syndrome when the phenomenon is associated with another systemic disorder and Raynaud disease when there is no established systemic process. Similarly, Raynaud phenomenon in the absence of a systemic illness may also be referred to as primary Raynaud phenomenon, and Raynaud in the presence of another systemic illness may be termed secondary Raynaud phenomenon. In this case, there is no evidence of another systemic illness. Clinical features suggesting SLE or RA are absent. Subacute bacterial endocarditis likewise would be expected to be associated with fever, which is absent in this patient. In addition, one would expect to see areas of necrosis either in the soft tissue (Janeway spots) or under the fingernails (splinter hemorrhages) were any kind of embolic phenomenon is present. (Harrison's Principles of Internal Medicine, 15th ed., pp. 1438- 1439)
Given the patient's age, it is reasonable to explore the possibility of an associated systemic illness. If one were present, basic laboratories such as blood count, urinalysis, and chemistries are important. ANAis a reasonable screening study in this case. It does have a prognostic value increasing the likelihood of the development of a systemic process in the future.

If positive, further serologic studies might then be helpful in establishing a more specific diagnosis. The arterial Doppler with cold stimulation can be a useful test in showing a marked drop in blood flow with cold exposure. Still, with such a classical description, it is hard to imagine how this test would be helpful either diagnostically or therapeutically. Antidouble-stranded DNA antibodies would establish the diagnosis of SLE. Likewise, the antiscleroderma antibodies (anti-Scl-70) would be a very important prognostic marker once the ANA is positive and certainly would occasion a rheumatic disease consultation. Patients with hypercoagulable states, including those with positive cardiolipin antibodies, can often mimic Raynaud's. Given that the patient wants to become pregnant, this would be an important study to obtain. Sjögren antibodies, both SSA and SSB, are important in this case because of the contemplated pregnancy. Sjögren antibodies can cross the placenta and create the syndrome of neonatal lupus (complete heart block, thrombocytopenia, and rash).



A 25-year-old woman presents to your office complaining of cold hands. She describes them turning white as she reaches for orange juice in the frozen food section of the supermarket. It seems to be getting worse lately. She has no other symptoms but does note that she and her husband are contemplating pregnancy.
Her examination today is unremarkable.

Which of the following antibodies can cross the placenta and cause the syndrome of neonatal lupus?

  1. anti-double-stranded DNA antibodies
  2. antiscleroderma antibodies
  3. anticardiolipin antibodies
  4. Sjögren syndrome antibodies (SSA/SSB)
  5. anticentromere antibody

Answer(s): D

Explanation:

Vasospasm severe enough to reduce flow and produce cyanosis after exposure to cold is called Raynaud phenomenon. Some make a further distinction between Raynaud syndrome when the phenomenon is associated with another systemic disorder and Raynaud disease when there is no established systemic process. Similarly, Raynaud phenomenon in the absence of a systemic illness may also be referred to as primary Raynaud phenomenon, and Raynaud in the presence of another systemic illness may be termed secondary Raynaud phenomenon. In this case, there is no evidence of another systemic illness. Clinical features suggesting SLE or RA are absent. Subacute bacterial endocarditis likewise would be expected to be associated with fever, which is absent in this patient. In addition, one would expect to see areas of necrosis either in the soft tissue (Janeway spots) or under the fingernails (splinter hemorrhages) were any kind of embolic phenomenon is present. (Harrison's Principles of Internal Medicine, 15th ed., pp. 1438- 1439)
Given the patient's age, it is reasonable to explore the possibility of an associated systemic illness. If one were present, basic laboratories such as blood count, urinalysis, and chemistries are important. ANAis a reasonable screening study in this case. It does have a prognostic value increasing the likelihood of the development of a systemic process in the future.

If positive, further serologic studies might then be helpful in establishing a more specific diagnosis. The arterial Doppler with cold stimulation can be a useful test in showing a marked drop in blood flow with cold exposure. Still, with such a classical description, it is hard to imagine how this test would be helpful either diagnostically or therapeutically. Antidouble-stranded DNA antibodies would establish the diagnosis of SLE. Likewise, the antiscleroderma antibodies (anti-Scl-70) would be a very important prognostic marker once the ANA is positive and certainly would occasion a rheumatic disease consultation. Patients with hypercoagulable states, including those with positive cardiolipin antibodies, can often mimic Raynaud's. Given that the patient wants to become pregnant, this would be an important study to obtain. Sjögren antibodies, both SSA and SSB, are important in this case because of the contemplated pregnancy. Sjögren antibodies can cross the placenta and create the syndrome of neonatal lupus (complete heart block, thrombocytopenia, and rash).



A 55-year-old woman presents to your office with painful hands, causing difficulty opening jars and turning the key in the ignition of her car. She is fatigued and she notices joint stiffness, but limbers up by lunch. She has trouble getting her rings off because of enlarging knuckles. About a year ago, she tried some OTC ibuprofen, which seemed to help, but led to the development of a bleeding ulcer severe enough to require transfusion and ICU care. Otherwise, her health is good, and her review of systems is negative. Your physical examination reveals tenderness and swelling at the index proximal interphalangeal and metacarpophalangeal joints bilaterally. There are small effusions on both knees. She has tenderness to lateral compression of the forefoot area bilaterally.

Which of the following tests is most likely to result in a diagnosis?

  1. joint aspiration
  2. ESR
  3. serum uric acid
  4. rheumatoid factor
  5. ACE level

Answer(s): D

Explanation:

In all likelihood, this patient is presenting with a systemic inflammatory arthritis. Clearly, treatment will need to be initiated. In order to effectively and promptly treat her, you will need to understand the current state of her physiology. Therefore, basic laboratory studies including blood count, full chemistries, and urinalysis should be obtained. At this point, the most likely diagnosis is RA, and the rheumatoid factor and sedimentation rate may be helpful. Theoretically, sarcoidosis can present in this way but, epidemiologically, this is much less likely. Because of this and because the ACE level is fairly nonspecific, it should not be part of the initial workup. Neither joint fluid aspiration nor uric acid levels are likely to be diagnostic. The elevation of serum transaminase in the face of elevated sedimentation rate, moderate or low positive ANA, and rheumatoid factors raise the question about hepatitis C.

About 50% of patients with active hepatitis C will have cryoglobulinemia. Cryoglobulins can produce low moderate positive rheumatoid factors. Therefore, it is extremely important in this circumstance to be certain that hepatitis C is not present. With such a low positive ANA, the likelihood that this is classical Lupus is low, and double-stranded DNA antibodies are not likely to be revealing. C-reactive protein may confirm the presence of inflammation, but it won't provide additional information over the sedimentation rate. Syphilis, "the great imitator," again may occasionally have arthritis as a manifestation--but rarely without other features. The remaining studies while they might be useful later but are unlikely to be helpful as the next most important test obtained. The probable source of the patient's symptoms is RA. Osteoarthritis can produce articular swelling, but on physical examination, there is rarely bogginess in the synovium. Anti- CCP antibody is an antibody directed against the citrullinated portion of fillagen. It has the highest specificity for RA of any antibody known. It is usually present early and may predict more severe disease.






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