Chest
Volume 119, Issue 5, May 2001, Pages 1606-1608
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Selected Reports
von Recklinghausen Disease Complicated by Pulmonary Hypertension

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Two patients with von Recklinghausen disease (neurofibromatosis type 1) were admitted to the hospital because of progressive heart failure. Both patients had prominent pulmonary hypertension revealed on cardiac catheterization. A lung perfusion scan did not show any gross defect. There were no underlying causes of pulmonary hypertension in either patient, such as chronic lung disease, congenital or acquired heart disease, deep vein thrombosis, or systemic hypercoagulable states. There may be an unrecognized association between von Recklinghausen disease and pulmonary hypertension.

Section snippets

Case 1

The first patient was a 19-year-old Japanese woman who had received a diagnosis of von Recklinghausen disease from her skin lesions at 5 years of age. She had progressive dyspnea, palpitation, and general fatigue on effort at the age of 15 years. Fourteen months later, she had an episode of chest pain and syncope when she rode a bicycle. Her first admission to our hospital was at the age of 16 years. She was in New York Heart Association (NYHA) functional class 2. Systemic multiple café-au-lait

Discussion

The prognosis is generally good in most patients with von Recklinghausen disease, but the course is occasionally complicated with systemic vasculopathy that results in renovascular hypertension, myocardial infarction, cerebral infarction, ischemic bowel disease, or rupture of an arterial aneurysm.23 Such vascular complications are major determinants of the morbidity and mortality in patients with von Recklinghausen disease.3 Samuels et al4 described a case complicated with pulmonary

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    NF1-PAH is an extremely severe complication of NF1 characterized by late onset, female predominance, severe hemodynamic impairment, poor response to PAH-specific therapy and poor outcome [11]. To the best of our knowledge, only twenty-one cases of NF1-associated PAH have been reported [11–19]. As these cases are rare and the underlying mechanisms are unclear and multifactorial, this entity has been listed in group 5 of the PH clinical classification [20].

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    The neurofibromatosis type 1 gene has been shown to modulate protein kinase B, which is an important regulator of cell proliferation. Lung fibrosis and CTEPH are thought to be the predominant pathologic mechanism for the development of PH in these patients; however, medial and/or intimal hypertrophy and fibrosis with narrowing of pulmonary arteries and veins on histologic examination have been identified and may also play a role.148–152 Rare cases of PH with a clinical presentation similar to PAH in patients with antineutrophil cytoplasmic antibodies–associated vasculitis have been reported; however, histologic data are not available.153

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