Pulmonary Capillary Hemangiomatosis

Epidemiology

  • Rare disorder
  • Occurs mainly in children and young adults (12 reported cases)
  • [[Pulmonary Veno-Occlusive Disease]], pulmonary capillary hemangiomatosis, and [[Idiopathic Pulmonary Arterial Hypertension]] may all represent various points on a single spectrum of disease
  • Familial Clustering: similar to [[Pulmonary Veno-Occlusive Disease]] and [[Idiopathic Pulmonary Arterial Hypertension]], familial cases of pulmonary capillary hemangiomatosis have been reported
    [Montani D, Price LC, Dorfmüller P, et al. Pulmonary veno-occlusive disease. Eur Respir J 2009;33:189–200]
  • Risk Factors: [[Pulmonary Veno-Occlusive Disease]], pulmonary capillary hemangiomatosis, and [[Idiopathic Pulmonary Arterial Hypertension]] share similar risk factors
    • Scleroderma Spectrum of Disease
      [Dorfmüller P, Humbert M, Perros F, et al. Fibrous remodeling of the pulmonary venous system in pulmonary arterial hypertension associated with connective tissue diseases. Hum Pathol 2007;38:893–902]
    • HIV Infection
      [Escamilla R, Hermant C, Berjaud J, Mazerolles C, Daussy X. Pulmonary veno-occlusive disease in a HIV-infected intravenous drug abuser. Eur Respir J 1995;8:1982– 4]
      [Ruchelli ED, Nojadera G, Rutstein RM, Rudy B. Pulmonary veno-occlusive disease: another vascular disorder associated with human immunodeficiency virus infection? Arch Pathol Lab Med 1994;118:664-6]
    • Use of Anorexigens

Physiology

  • Proliferation of capillaries in interstitium, invading alveolar spaces and pulmonary veins (produces a form of pulmonary VOD)
    • Unclear mechanism of diffuse alveolar hemorrhage: however, likely involves mechanical rupture of hemanigomatous vessels and/or thrombosis

Pathology

  • Absence of pulmonary capillaritis
  • Pathologic studies of [[Pulmonary Veno-Occlusive Disease]] and [[Pulmonary Capillary Hemangiomatosis]] (PCH) are similar (suggesting overlap between these conditions): pulmonary hemosiderosis, interstitial edema, and lymphatic dilation, pulmonary arterial intimal fibrosis, and medial hypertrophy
    • Intimal fibrosis and medial hypertrophy are similarly seen in [[Idiopathic Pulmonary Arterial Hypertension]]
  • Clinicopathologic study of 38 cases (15 autopsies, 15 surgical biopsies, 7 explants, and 1 pneumonectomy obtained from 35 patients) diagnosed as having either pulmonary VOD (n = 30) or [[Pulmonary Capillary Hemangiomatosis]] (n = 5) -> demonstrated signficant pathologic overlap between the diseases
    • Pulmonary capillary hemangiomatosis was identified in 24 (73%) patients diagnosed as having [[Pulmonary Veno-Occlusive Disease]], either as perivenular foci or diffuse involvement of the pulmonary parenchyma.
    • In 5 patients diagnosed with pulmonary capillary hemangiomatosis, 4 showed the venous and arterial changes characteristic of [[Pulmonary Veno-Occlusive Disease]]
      [Lantuejoul S, Sheppard MN, Corrin B, Burke MM, Nicholson AG. Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: a clinicopathologic study of 35 cases. Am J Surg Pathol 2006;30:850-7]

Diagnosis

  • PFT’s: both obstructive and restrictive patterns have been reported
  • DLCO: increased during DAH
  • OLB:
  • CXR/Chest CT
    • Diffuse or Patchy Focal Alveolar Infiltrates: due to DAH
    • Interstitial infiltrates: may appear with chronic or recurrent DAH
  • CBC: leukocytosis/anemia (iron deficiency if bleeding is severe/recurrent)
  • ESR: elevated
  • Urinalysis: usually normal
  • Swan
    • PCWP: usually normal

Clinical

(the clinical presentations of [[Pulmonary Veno-Occlusive Disease]], pulmonary capillary hemangiomatosis, and [[Idiopathic Pulmonary Arterial Hypertension]] are often indistinguishable, prior to autopsy -> however, in contrast to [[Idiopathic Pulmonary Arterial Hypertension]], patients with [[Pulmonary Veno-Occlusive Disease]] and pulmonary capillary hemangiomatosis have crackles and clubbing on examination, ground glass opacities, septal thickening, mediastinal adenopathy on chest CT, hemosiderin-laden macrophages on BAL, lower DLCO, and more severe hypoxemia)

  • Pulmonary Hypertension/Cor Pulmonale (see Pulmonary Hypertension, [[Pulmonary Hypertension]]) and [[CHF]])
    • Symptoms of Cor Pulmonale: dyspnea, fatigue, syncope
  • Diffuse Alveolar Hemorrhage (see [[Diffuse Alveolar Hemorrhage]])
    • Cough
    • Dyspnea
    • Hemoptysis (occurs 33% of cases at some point in the disease): may be absent on initial presentation in some cases, even after significant bleed
      • Usually severe and recurrent
    • Chest pain: may occur

Treatment

  • In histologically-proven [[Pulmonary Veno-Occlusive Disease]] (with or without pulmonary capillary hemangiomatosis)
    • In response to pulmonary vasodilator therapy (mainly continuous intravenous epoprostenol, but also with bosentan and calcium channel blockers), 43.8% of the pulmonary VOD patients developed pulmonary edema
    • Clinical outcome was worse with pulmonary VOD, as compared to cases with IPAH/anorexigens/familial pulmonary HTN
      [Montani D, Achouh L, Dorfmüller P, et al. Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine (Baltimore) 2008;87:220-33]
  • IFN-alpha 2a: produced significant improvement in one case
  • Lung Transplantation: has been successful on case reports

Prognosis

  • Usual survival: 1-5 years

References

  • Montani D, Price LC, Dorfmüller P, et al. Pulmonary veno-occlusive disease. Eur Respir J 2009;33:189–200
  • Dorfmüller P, Humbert M, Perros F, et al. Fibrous remodeling of the pulmonary venous system in pulmonary arterial hypertension associ- ated with connective tissue diseases. Hum Pathol 2007;38:893–902
  • Escamilla R, Hermant C, Berjaud J, Mazerolles C, Daussy X. Pulmonary veno-occlusive disease in a HIV-infected intravenous drug abuser. Eur Respir J 1995;8:1982-4
  • Ruchelli ED, Nojadera G, Rutstein RM, Rudy B. Pulmonary veno-occlusive disease: another vascular disorder associated with human immunodeficiency virus infection? Arch Pathol Lab Med 1994;118:664-6
  • Montani D, Achouh L, Dorfmüller P, et al. Pulmonary veno- occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine (Baltimore) 2008;87:220-33
  • Runo JR, Vnencak-Jones CL, Prince M, et al. Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. Am J Respir Crit Care Med 2003;167: 889-94
  • Lantuejoul S, Sheppard MN, Corrin B, Burke MM, Nicholson AG. Pulmonary veno-occlusive disease and pulmonary capillary hemangi- omatosis: a clinicopathologic study of 35 cases. Am J Surg Pathol 2006;30:850 –7
  • Resten A, Maitre S, Humbert M, et al. Pulmonary hypertension: CT of the chest in pulmonary venoocclusive disease. AJR Am J Roent- genol 2004;183:65–70
  • Holcomb BW Jr,. Loyd JE, Ely EW, Johnson J, Robbins IM. Pulmonary veno-occlusive disease: a case series and new observations. Chest 2000;118:1671–9
  • Dufour B, Maitre S, Humbert M, Capron F, Simonneau G, Musset D. High-resolution CT of the chest in four patients with pulmonary capillary hemangiomatosis or pulmonary venoocclusive disease. AJR Am J Roentgenol 1998;171:1321–4
  • Rabiller A, Jaïs X, Hamid A, et al. Occult alveolar haemorrhage in pulmonary veno-occlusive disease. Eur Respir J 2006;27:108–13