A 15-year-old man presents to the clinic accompanied by his mother for evaluation of “red hands.” He earned money last winter clearing sidewalks of snow and plans to do so again in the upcoming weeks. He reports developing red discoloration of his hands after returning home from the cold. The discoloration persisted for a few minutes until his hands were rewarmed. He denies weakness, paresthesia, pain, or skin lesions. He is otherwise healthy. At the time of consultation, inspection of his hands is unrevealing. Radial and ulnar pulses are 2+/2 bilaterally. The Allen test and reverse Allen test reveal return of color to the hands in 7 seconds bilaterally. His mother reports that she and her mother both have Raynaud phenomenon. The patient’s mother expresses concern that her son may have systemic lupus and she requests further testing.
What is the most likely diagnosis?
Normal physiologic cold response. This patient is exhibiting a normal response to prolonged exposure to cold. The diagnosis of Raynaud phenomenon is clinical and includes the presence of pallor or acrocyanosis and pain with cold exposure. Redness of the hands with warming after prolonged cold exposure, without concomitant pain, may be a normal response in a healthy young individual. He should be counseled to wear gloves and report any change in his symptoms, as his family history does predispose him to development of Raynaud phenomenon.
Reference:
Wigley FM. Raynaud’s phenomenon. N Engl J Med. 2002;347:1001–1008.
Of the following, which is the most appropriate next step to objectively evaluate this patient?
Order antinuclear antibodies, erythrocyte sedimentation rate, and perform nailfold capillaroscopy. If all these tests are normal, it is very unlikely that this patient has secondary Raynaud phenomenon and no further testing is necessary.
Creager MA, Dzau VJ, Loscalzo J. Vascular Medicine: A Companion to Braunwald’s Heart Disease. Philadelphia, PA: Elsevier Health Sciences; 2006:689–706.
When would be the most appropriate time to schedule a follow-up appointment?
As needed. Although the patient does not have Raynaud phenomenon, he should be encouraged to follow up as needed because of his family history. Patients who have primary Raynaud phenomenon should have clinical follow-up for a minimum of 2 years after diagnosis.
A 49-year-old man presents to the clinic with complaints of progressive exertional dyspnea for several weeks. His speech is mildly breathless. Neck veins are distended bilaterally and there is moderate lower extremity edema. He denies chest pain. Electrocardiogram (ECG) shows sinus tachycardia without ST-segment abnormality. Physical examination reveals a parasternal heave and systolic ejection murmur. Past medical history is significant for splenectomy after a car accident several years ago.
Which of the following will most accurately confirm the underlying cause of this patient’s symptoms?
Pulmonary arteriogram. An arteriogram is the test most likely to confirm pulmonary artery hypertension in this patient presenting with cor pulmonale, although a right heart catheterization is usually done first. This patient most likely has chronic thromboembolic pulmonary hypertension (CTEPH), a condition seen in otherwise healthy postsplenectomy patients. Other predisposing conditions include history of pulmonary embolism, myeloproliferative disorders, and chronic inflammatory conditions.
Hoeper MM, Mayer E, Simonneau G, et al. Chronic thromboembolic pulmonary hypertension. Circulation. 2006;113:2011–2020.
Which of the following statements is most accurate concerning this patient’s underlying diagnosis?
IV epoprostenol is an effective therapy in patients with advanced disease. Patients with CTEPH may be bridged to pulmonary endarterectomy with IV epoprostenol. The other answers are incorrect. Anticoagulation with a vitamin K antagonist is indicated; however, the INR target of 2.0 to 3.0 is recommended. The Aerosolized Iloprost Randomization (AIR) study did not demonstrate improved exercise capacity with inhaled iloprost. Bosentan does improve exercise capacity and decreases pulmonary vascular resistance, but is not advocated for use in patients with moderate-to-severe hepatic dysfunction.
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