On examination, temperature is normal, BP is 139/84, HR 87 bpm, and RR 16/min. The patient has rosy cheeks. There is no JVD, cardiopulmonary exam is normal, and spleen tip is palpable just below the left costal margin.

Lab

Leukocyte count: 11,200/microL
Platelet count: 405,000/microL
Erythropoietin: 10 mU/mL
Arterial oxygen saturation: 96% (on room air)
Cytogenetic studies: positive JAK2 mutation

What is the most appropriate therapy?

Blood transfusion is required if the hemoglobin level is less than 10 g/dL, has severe symptoms related to the anemia, in the presence of excessive bleeding, or at the time of surgery and expected blood loss.

Treatment options for patients with this syndrome include lung transplantation with intracardiac repair and pulmonary vasodilator therapy. Pulmonary vasodilators can improve symptoms, but would not be the treatment of choice in this patient until the hemoglobin is corrected. If symptoms persist after correcting the anemia, then pulmonary vasodilators may benefit this patient. Another option would be heart-lung transplantation.

Observation and follow-up is not appropriate.

Key Point

In a patient with Eisenmenger Syndrome and anemia, the treatment of choice is low dose iron therapy and reassessment of the Hb/Hct after 7-10 days.

Reference:  ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease.

A 52 year old lady with unrepaired congenital heart disease and chronic cyanosis presents with new onset fatigue and exertional dyspnea. She has a ventricular septal defect with Eisenmenger syndrome. The remainder of her history is significant for menorrhagia.

On examination, her BP is 121/68, HR 72 bpm and regular, JVP has prominent a wave, nondisplaced PMI, with a +2 parasternal pulse. She has an accentuated pulmonic S2; no gallops/canters are appreciated. There is a soft murmur at the LSB and an ejection click a the 2nd LIS. There is no diastolic murmur. Her carotid exam is normal. Cyanosis and digital clubbing is present.

Her lab results are significant for a hematocrit of 48%, hemoglobin 13.5 g/dL, sCr 1.3 mg/dL, and a normal fasting plasma glucose.

Her EKG demonstrates right axis deviation and RVH. The CXR reveals prominent central pulmonary arteries and decreased vascularity in the lung fields.

Which treatment is most appropriate at this time?

On examination, her BP is 121/68, HR 72 bpm and regular, JVP has prominent a wave, nondisplaced PMI, with a +2 parasternal pulse. She has an accentuated pulmonic S2; no gallops/canters are appreciated. There is a soft murmur at the LSB and an ejection click a the 2nd LIS. There is no diastolic murmur. Her carotid exam is normal. Cyanosis and digital clubbing is present.

Her lab results are significant for a hematocrit of 48%, hemoglobin 13.5 g/dL, sCr 1.3 mg/dL, and a normal fasting plasma glucose.

Her EKG demonstrates right axis deviation and RVH. The CXR reveals prominent central pulmonary arteries and decreased vascularity in the lung fields.

Which treatment is most appropriate at this time?

On physical exam, her temp is 37.1 degrees C (98.7 F), BP is 137/79, HR is 85/min, and RR is 14/min. Her BMI is 31. Heart and lung exam is normal. No rash is apparent. MSK exam reveals tenderness and swelling of the 2nd and 3rd MCP joints bilaterally. Her elbows are stiff but have full ROM and do not have signs of synovitis. There is squeeze tenderness of the bilateral metatarsophalangeal joints.

Labs

CBC wnL, Rheumatoid factor negative, TSH 1.9 mU/L, Anti-cyclic citrullinated peptide antibodies positive, IgG antibodies against parvovirus B19 positive, and IgM antibodies against parvovirus B19 negative.

Which of the following is the most likely diagnosis?

This patient has early rheumatoid arthritis. The peak age of onset is in the mid 50s. RA usually manifests as symmetric polyarthritis involving the small joints of the feet and hands. They may also have fever and fatigue. Rheumatoid factor assays detect IgM reactive against IgG, and is present in 50% of patients with early RA. However it is not specific and can be seen in patients with SLE, sarcoidosis, Sjogren's, and other auto-immune diseases or chronic infections. Anti-cyclic citrullinated peptide (CCP) antibodies are more specific for RA and can be present when rheumatoid factor is not. Anti-CCP also predict more severe disease, poorer functional outcomes, and radiologic progression.

Hypothyroidism can cause fatigue and rarely polyarthralgia. However, this patient has normal TSH levels.

Parvovirus B19 may manifest as fever, fatigue, RF positive, and joint manifestations like RA. However, this condition is self-limited and usually resolves after several months. The "slapped cheek" rash of erythema infectiosum in children is rarely seen. The absence of IgM antibodies against parvovirus B19 argue against active infection. The presence of IgG antibodies against parvovirus B19 may be related to a previous infection.

Polymalgia rheumatica usually presents as aching, fatigue, and morning stiffness in the shoulder and hip girdles. It is sometimes associated with giant cell arteritis. Symmetric, small joint involvement and frank joint swelling are only seen in a minority of patients with PMR. These patients usually have markedly elevated ESR and anemia. This patient lacks shoulder and hip girdle symptoms.

SLE develops more frequently in reproductive age women. It may be associated with polyarthritis and constitutional symptoms but rarely without systemic manifestations, such as rash, cytopenias, and pleuritis.

Key Points

Anti-CCP antibodies are more specific for RA than rheumatoid factor and may be present in early disease when RF levels are normal.

Reference: Maijithia V. Rheumatoid arthritis: diagnosis and management. Am J Med 2007; 120: 936.