Rheumatology Case: Hand and Wrist Pain with Purple Fingers

Of course, the diagnosis is clear for me but I wonder if it is the same for the students so I will wait for further questions on this case and more participations

skin
Joints
GI tract "especially esophagus"
vasculature
lungs

scleroderma...right dr.Tarek?

On the basis of history and physical examination, this patient has evidence of involvement of the vasculature, skin , lungs, joints, and GI tract. There are no historical features or physical findings to suggest renal or CNS involvement.

This woman described the classical sequence of cutaneous symptoms of Raynaud’s phenomenon, notably, blanching and then cyanosis on exposure to cold, followed by erythema on rewarming. These symptoms can be induced by emotional stress in some patients. Raynaud’s phenomenon can be caused by either vasospasm or structural disease of arteries .

The patient has developed symmetrical swelling of the fingers and hands. Additionally, early thickening of the skin over the digits is present.

She has arthralgias of the wrists and ankles; however, physical exam does not disclose any abnormalities of the joints.

The patient describes dyspnea, and crackles were heard on physical examination.

Heartburn may be an indication of esophageal dysmotility. A decrease in lower esophageal sphincter pressure may permit reflux of stomach contents which patients experience as heartburn or dyspepsia.

Secondary Raynaud’s phenomenon can be associated with connective tissue diseases, but it also may occur with other disorder:
Connective tissue diseases :
- Systemic sclerosis
- Diffuse cutaneous scleroderma
- Limited cutaneous scleroderma (CREST syndrome)
- Systemic lupus erythematosus
- Mixed connective tissue disease (MCTD)
- Undifferentiated connective tissue disease (UCTD)
- Rheumatoid arthritis
- Dermatomyositis, polymyositis
- Sjögren’s syndrome
Neurovascular compression :
- Thoracic outlet syndrome
- Carpal tunnel syndrome
Arterial disease :
- Thromboangiitis obliterans
- Thromboembolism
- Arteriosclerosis
- Giant cell (temporal) arteritis
Blood abnormalities :
- Cryoglobulinemia
- Cryofibrinogenemia
- Cold hemagglutinins
- Monoclonal gammopathy
- Polycythemia
Drugs and toxins :
- Ergot derivatives
- Methysergide
- Beta-blockers
- Bleomycin
Occupational trauma :
- Use of percussion and vibrating tools
- Traumatic occlusive arterial disease
- Exposure to vinyl chloride
Miscellaneous :
- Reflex sympathetic dystrophy
- Hypothyroidism
- Pheochromocytoma
- Neoplasm
- Primary pulmonary hypertension
- Variant angina

The presence of Raynaud’s phenomenon, arthralgias, morning stiffness, thickening of the skin, and pulmonary findings should raise the suspicion of a systemic connective tissue disease, such as scleroderma (systemic sclerosis), systemic lupus erythematosus , or mixed or undifferentiated connective tissue disease. Early in the course of the illness it may be difficult to arrive at a specific diagnosis. The signs and symptoms present in this patient are compatible with each of these possibilities.

Systemic scleroderma is a generalized disorder of connective tissue that is characterized by thickening and fibrosis of the skin. In most patients with scleroderma, the first symptom is Raynaud’s phenomenon. In some, especially patients who develop diffuse cutaneous scleroderma, the earliest symptom may be diffuse puffiness of the hands and fingers, polyarthritis, or polyarthralgias. The finding of thickening of the skin in this patient suggests systemic sclerosis. Patients with widespread skin thickening are at the greatest risk of visceral involvement, which may include the heart, lungs, kidneys, or gastrointestinal system.

Patients with limited cutaneous scleroderma are sometimes referred to as having the CREST syndrome (Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasias). Raynaud’s phenomenon is almost always apparent at presentation in patients with the CREST syndrome and in about 70% of patients with diffuse disease.

Systemic lupus erythematosus may produce skin rash, arthritis or arthralgias, and affect the heart, lungs, kidneys, gastrointestinal system, CNS, and blood. Raynaud’s phenomenon is present in 15 to 30% of patients with SLE. It occurs in a higher percentage of patients with scleroderma than with SLE. However, due to the greater incidence of SLE than scleroderma, a patient with new-onset Raynaud’s phenomenon and multi-system disease is more likely to have SLE than scleroderma.

Undifferentiated or mixed connective tissue disease has clinical features of SLE, scleroderma, and myositis, and is associated with high titers of autoantibodies to ribonucleoprotein. As such, any of the systemic involvement possible in SLE or scleroderma might be expected, and Raynaud’s phenomenon occurs frequently. Although initially termed “mixed connective tissue disease,” many patients with undefined or overlap syndromes and high levels of anti-RNP antibodies on follow-up meet criteria for either scleroderma, SLE, or Sjögren’s syndrome, with a smaller number remaining classified as having undifferentiated disease. Thus, UCTD may be the preferred term, although the term MCTD is still commonly employed.

As stated before, primary Raynaud’s is unlikely because of the associated articular, GI, and pulmonary symptoms, as well as the digital pitting scars. Rheumatoid arthritis might be considered in light of the Raynaud’s phenomenon, polyarthralgia, and swelling of the hands, but no synovitis was detected on examination. Patients with polymyositis or dermatomyositis may have Raynaud’s phenomenon, but no muscle weakness was present in this patient. There is no history or findings of sicca symptoms to suggest Sjögren’s syndrome. Although patients with vasculitis may develop Raynaud’s phenomenon and have systemic disease, skin thickening is not a feature of PAN.

we have arthralgias, raynaud's, skin lesions, retrosternal burning sensation, and mild dyspnea..

skin biopsy sounds right, and i think it will give the best clues on her disease, CXR, EGD with biopsies if any lesions were noticed, and an X-ray of the hands and wrists also can tell.

so 1, 3, 4, 7...

hope i'm not mixing things up

After narrowing the possibilities to a connective tissue disease, additional tests can further refine the diagnosis and assess the patient’s baseline status. A chest x-ray and pulmonary function tests should be performed, in light of the patient’s complaint of dyspnea and the presence of rales. Patients with scleroderma can exhibit either fibrosing alveolitis progressing to interstitial fibrosis or vasculopathy resulting in pulmonary hypertension. Interstitial fibrosis is more likely to be severe in patients with diffuse skin involvement, while isolated pulmonary hypertension is associated with CREST syndrome. In limited scleroderma, however, several decades may pass before clinically significant pulmonary disease or other visceral involvement develops. A barium swallow can document the severity of esophageal dysmotility, and may also reveal reflux or esophageal stricture.

Nailfold capillary microscopy can be helpful in identifying patients with scleroderma who may exhibit dropout of some nailfold capillary loops and enlarged, dilated loops in the remaining capillaries. Similar changes are seen in patients with dermatomyositis, but these two conditions can usually be distinguished easily on clinical grounds. plz see this link:
http://www.hakeem-sy.com/main/node/20196

A skin biopsy is likely to be abnormal, but is usually not necessary for diagnosis. Angiography is not indicated because her vascular disorder is not characteristic of atherosclerotic peripheral vascular disease. Her pulses are normal. Cutaneous calcinosis in scleroderma may be seen on x-ray, but its demonstration is not necessary to make the diagnosis, and radiographs of the extremities would add little to this case. The upper GI tract may be involved in scleroderma, but esophageal function is better demonstrated on barium swallow than upper GI endoscopy. Endoscopy should be performed if ulcers or strictures are suspected.

Bibasilar interstitial fibrosis was evident on chest x-ray, and the pulmonary function study revealed diminished DLCO. Nailfold capillary microscopy demonstrated avascular areas with several widened, enlarged capillary loops on each digit. Barium swallow revealed moderate esophageal dysmotility.

Skin biopsy revealed increased compact hyalinized collagen fibers in the lower dermis and upper subcutaneum in association with perivascular and interstitial lymphocytic and histiocytic infiltrates.

X-rays of the hand/wrists and upper GI endoscopy were all normal. The patient refused angiography.

A. Rheumatoid factor negative.
B. Antinuclear antibody titer 1:2,560 in a nucleolar pattern.
C. Anti-double-stranded DNA antibody negative.
D. Anti-centromere antibody negative.