Image - (2018) Volume 6, Issue 2
Giambattista Lobreglio*
Director of Clinical Pathology Laboratory, Vito Fazzi General Hospital, Italy
*Corresponding Author:
Giambattista Lobreglio
Director of Clinical Pathology Laboratory
Vito Fazzi General Hospital, Piazza F. Muratore 1, Lecce 73100
Italy.
Tel: +39 0832 661111
E-mail: patologiaclinica.polecce@ausl.le.it
Received date: June 25, 2018; Accepted date: June 29, 2018; Published date: July 02, 2018
Citation: Lobreglio G (2018) Hereditary Haemorrhagic Telangiectasia. Ann Clin Lab Res. Vol.6 No.2:239. doi: 10.21767/2386-5180.100239
Clinical Image
Multiple mucocutaneous teleangiectasias is most evident on the tongue (Figure 1, Panel A), buccal mucosa, chest and fingers (Figure 1, Panel B) in fatigue and iron-deficiency anemia, due to recurrent spontaneous epistaxis and a recent episode of gastrointestinal bleeding.
The clinical picture and the family history suggest the diagnosis of Hereditary Haemorragic Teleangiectasia (HHT). A missense mutation in the gene coding for the Activin receptor-like kinase ALK-1, confirming the diagnosis of HHT. Treatment with laser photocoagulation of nasal teleangiectasias and iron infusions was found to be relevant with improvement of the symptoms.
Figure 1: Panel (A) Multiple mucocutaneous teleangiectasias most evident on the tongue, buccal mucosa. Panel (B) Multiple mucocutaneous teleangiectasias most evident on chest and fingers.
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