Pulmonary capillary hemangiomatosis

Signs and symptoms

Nonspecific symptoms like fatigue, coughing, chest pain, and shortness of breath are what define clinical features.

Causes

At least some cases appear to be due to mutations in the eukaryotic translation initiation factor 2-alpha kinase 4 (EIF2AK4) gene.

This condition has been reported in patients with Ehlers Danlos syndrome, and scimitar syndrome.

Diagnosis

Pulmonary artery hypertension, which manifests as enlarged pulmonary arteries, is a common imaging characteristic of pulmonary capillary hemangiomatosis. Additionally, as pulmonary artery hypertension worsens, typical CT imaging findings of right ventricular hypertrophy, leftward interventricular septum bowing, right atrial enlargement, and reflux of IV contrast into the inferior vena cava and hepatic veins can indicate secondary right heart dysfunction.

Treatment

The only definitive treatment for this condition currently is lung transplantation.

Imatinib may be of use.

Epoprostenol does not appear to be of use.

Epidemiology

The prevalence of this disease is estimated to be

History

This condition was first described in 1978.

Outcome

Median survival without treatment is 3 years.

Animals

This condition has been reported in cats. and dogs.

References

References

1. (2017). "Enfermedad venooclusiva pulmonar y hemangiomatosis capilar pulmonar". Elsevier BV.
2. (1996). "Pulmonary capillary hemangiomatosis as a rare cause of pulmonary hypertension.". Pathol Res Pract.
3. (2007). "Pulmonary capillary hemangiomatosis imaging findings and literature update.". J Comput Assist Tomogr.
4. (2006). "Pulmonary Veno-occlusive Disease and Pulmonary Capillary Hemangiomatosis". The American Journal of Surgical Pathology.
5. (2019). "Pulmonary capillary hemangiomatosis: a lesson learned". Editora Cubo.
6. (2017). "EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension". Elsevier BV.
7. (2017). "Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci". Ovid Technologies (Wolters Kluwer Health).
8. (2016). "Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome". Hindawi Limited.
9. (2017). "Efficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis". Elsevier BV.
10. (2015). "Epoprostenol Therapy for Pulmonary Arterial Hypertension". Acta Med Okayama.
11. (June 30, 2018). "Pulmonary Veno-Occlusive Disease: Pathogenesis, Risk Factors, Clinical Features and Diagnostic Algorithm—State of the Art". MDPI AG.
12. (February 1, 2017). "Hemangiomatosis capilar pulmonar congénita en un recién nacido". Sociedad Argentina de Pediatria.
13. (1978). "Capillary haemangiomatosis of the lungs". Wiley.
14. (2015). "Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis". Informa UK Limited.
15. (July 28, 2017). "Pulmonary capillary hemangiomatosis and hypertrophic cardiomyopathy in a Persian cat". SAGE Publications.
16. (November 29, 2018). "Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis". Wiley.