A 16-year-old girl with HHT1 complicated by splenic rupture

A 16-year-old girl with severe abdominal pain and her hemoglobin decreased continuously. Laboratory tests showed a low Oxygenation (84%). She had recurrent epistaxis since childhood. Her father died of cerebrovascular accident and grandmother had a history of recurrent epistaxis also.

CT scan of abdomen revealed the rupture of the spleen and massive blood accumulation in the abdominal cavity (Figures 1a, 1b, 1c).

Enhanced CT scan of chest revealed multiple pulmonary arteriovenous malformations in both lungs, the largest of which was located in the left lower lobe (Figures 2-7).

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Rendu-Weber syndrome, is a rare autosomal dominant vascular disease. HHT is caused by gene mutation, which leads to angiogenesis, dysplasia and vascular malformation. The related genes were identified as ENG gene, ALK1/ACVRL1 gene, BMPQ/GDF2 gene, SMAD4 gene, Drosha gene, COL5A2 gene, ID3 gene and so on. The pathological basis of HHT is telangiectasia and arteriovenous malformations (AVMs), in which the capillary venules dilate and fuse directly with the arterioles, resulting in abnormal communication between the arteries and veins [1].

The clinical features were recurrent epistaxis, Telangiectasia of skin and mucosa, and arteriovenous malformations of lung, brain and liver. The symptoms of epistaxis and skin and mucous telangiectasia in HHT patients occur at variable ages and are not clinically specific, and there is a general lack of awareness of HHT. Therefore, it is very important to screen the high-risk population of HHT by imaging examination. Enhanced multi-slice spiral CT and MRI scans are good candidates for the sensitive detection of these lesions.

Early arteriovenous malformations of internal organs are characterized by abnormally enhanced nodules with arteriovenous components, sometimes accompanied by “Halo sign”, tumor-like masses can be found and can be traced clearly to the feeding arteries and draining veins.

There is no permanent effective treatment for HHT, and the main treatment in clinic is to support and relieve the symptoms [2]. Imaging examination can identify the disease in the early stage. Transcatheter closure of AVMs of internal organs is a good choice for AVMs with minimal invasion and good tolerance, and can effectively reduce the abnormal shunt in AVMs, reduce the risk of brain complications [3].

Teaching Points: The clinical diagnosis was based on Curaçao criteria [4]:

1. Recurrent spontaneous epistaxis;
2. Telangiectasia manifestations of the skin and mucosa, such as lip, nose, turbinate bed, oral mucosa;
3. Visceral involvement, such as lung, liver, brain and other internal organs arteriovenous malformations;
4. Family history.

The diagnosis of HHT could be confirmed by 3 or more criteria, 2 were suspected, and 0-1 criteria could exclude the diagnosis of HHT.

Written informed patient consent for publication has been obtained.