Discussion
As a rare disease, the clinical manifestations of BRBNS is varied
dependent on organs involvement. The lesions often occur at the
cutaneous and GI tract. The typical lesions of cutaneous are only a few
or quite a few scattered dark blue nevus with different size, usually
asymptomatic [3]. The notable symptoms with GI
tract lesions are hemorrhage and secondary anemia due to digestive tract
blood loss [4]. A series of reports applause that
video capsule endoscopy can provide direct and complete scanning of
small-bowel lesions [2]. For this patient, she has
suffered refractory IDA for 12 years, without any obvious signs of GI
tract hemorrhage including hematochezia, melena, and negative FOBT many
times. Misdiagnosis and delayed curation often occurs in such patients
without significant cutaneous lesions or GI tract bleeding events.
The etiology of BRBNS is still unknown, and the majority of cases are
sporadic without definite family history. It has been described an
autosomal dominant transmission in some cases, with the responsible
locus in 9p chromosome [5]. Recently, Soblet et
al. discovered that somatic mutations in TEK (the gene encoding TIE2)
could result in ligand-independent activation of TIE2 and lead to BRBNS[6]. The treatment of BRBNS includes supportive
therapy [2], pharmacological interventions[7], and endoscopic treatments[8]. Surgery is reserved for patients with
significant hemorrhage or other complications [9].
Nowadays, some researchers also propose that sirolimus is useful for the
patients with BRBNS. However, there are no clear guidelines regarding
dosing regimen, and the long-term safety [10].
Until now, there is no available guidelines for diagnosis and management
for BRBNS. The management of BRBNS generally depends on the extent of
intestinal involvement and presence of other organ involvement, we just
simply outline the management and treatment of BRBNS (Fig. 3). If
patients only exhibit intermittent occult bleeding or mild anemia,
palliative options such as iron supplementation and blood transfusion
are usually chosen [2]. When patients have massive
hemorrhage, refractory severe anemia, or related GI complications such
as intussusception, rupture, gangrene, volvulus, and infarction, surgery
or endoscopic treatment are recommended [11]. The
successful use of sirolimus was recently reported in the treatment of
BRBNS [12]. However, sirolimus has potential side
effects on renal function, bone marrow, and cholesterol metabolism. In
consideration of the patient’s young age, we did not adopt this method.
In this patient, we first deliver conservative therapies to improve the
severity of anemia, and then we perform surgical resection successfully.
She is in the remission condition but further follow-up is still needed.
Refractory IDA and chronic occult bleeding from GI tract could happen
due to BRBNS. Clinicians should keep in mind to detect the underlying
diseases from GI tract by endoscopy.
Precision diagnosis and appropriate
intervention could booster to upgrade the quality of life for patients.