|Year : 2019 | Volume
| Issue : 2 | Page : 76-78
Congenital hypofibrinogenemia – A cause for neck swelling
Kartikesh Gupta, Amit Kumar, Amit Kumar Tyagi, Saurabh Varshney, Manu Malhotra
Department of Otolaryngology and Head Neck Surgery, AIIMS, Rishikesh, Uttarakhand, India
|Date of Submission||21-May-2019|
|Date of Acceptance||29-Sep-2019|
|Date of Web Publication||25-Nov-2019|
Dr. Amit Kumar
Department of Otolaryngology and Head Neck Surgery, AIIMS, Rishikesh - 249 201, Uttarakhand
Source of Support: None, Conflict of Interest: None
Congenital hypofibrinogenemia is a rare condition which can present as spontaneous hemorrhage. We present a case of a 7-year-old male who presented with complaints of sudden swelling over the cheek and neck after an episode of fever and upper respiratory tract infection. The diagnosis was delayed as the initial diagnosis of deep neck space infection was suspected, and the patient was treated in that line. The diagnosis was suspected when the child developed swelling in the knee joint and workup was done for hypofibrinogenemia. The child was transfused with cryoprecipitate and he has complete recovery by day 7.
Keywords: Congenital hypofibrinogenemia, hypofibrinogenemia, neck
|How to cite this article:|
Gupta K, Kumar A, Tyagi AK, Varshney S, Malhotra M. Congenital hypofibrinogenemia – A cause for neck swelling. Ann Indian Acad Otorhinolaryngol Head Neck Surg 2019;3:76-8
|How to cite this URL:|
Gupta K, Kumar A, Tyagi AK, Varshney S, Malhotra M. Congenital hypofibrinogenemia – A cause for neck swelling. Ann Indian Acad Otorhinolaryngol Head Neck Surg [serial online] 2019 [cited 2019 Dec 14];3:76-8. Available from: http://www.aiaohns.in/text.asp?2019/3/2/76/271604
| Introduction|| |
Congenital fibrinogen disorders are extremely rare inherited coagulation disorders with incidence 1 in million. In coagulation disorders, acquired deficiencies are more common than congenital. Fibrinogen (Factor I, a glycoprotein) plays a role in a common pathway of coagulation cascade. Its plasma concentration is 1.5–3.5 g/L. Patients suffering from hypofibrinogenemia have a tendency to bleed when exposed to trauma but are usually asymptomatic. We present this case because hypofibrinogenemia is a rarity in differential diagnosis of primary neck swelling and may be missed without a strong clinical suspicion as in this case, which was primarily thought to be neck abscess.
| Case Report|| |
A 7-year-old male presented to the outpatient department with swelling on the right side of the neck for 4 days which was sudden in onset, nonprogressive, and associated with single episode of fever. There was no history of difficulty in breathing or swallowing, change in voice, trauma, discharge, cough with sputum, and pain. The patient was a case of cerebral palsy with spastic diplegia and was under the treatment of pediatrics and orthopedics and had a broomstick cast in the right leg for 1½ month. Antenatal and patient previous record revealed a history of ABO incompatibility. There was no other significant prenatal, natal, or postnatal history. On further evaluation, the patient's father revealed that he had a single episode of excessive bleeding after minor trauma, but no workup was done regarding that. On examination, all vitals were stable. On neck examination, there was 5 cm × 4 cm solitary, smooth, globular, nonpulsatile, nontender, soft, mobile, fluctuant, compressible swelling present in the right side of the neck extending superiorly from the level of the hyoid to the inferiorly cricoid and medially from the anterior border of the sternocleidomastoid to 2 cm behind the posterior border of the sternocleidomastoid with the overlying skin normal [Figure 1]. The patient had cast over the right lower limb. All routine investigations were ordered, and the patient underwent urgent ultrasound. All routine investigations were normal including prothrombin time (PT), activated Partial Thromboplastin Time (APTT), and international normalized ratio (INR), Total leucocyte count (TLC) =12780 cells/mm3, differential leucocyte count (DLC) = neutrophils=54%, Lymphocytes=38%, Eosinophil=2%, Monocytes=6%, Basophils=0%, and erythrocyte sedimentation rate = 21 mm/1st h). Ultrasonography (USG) of the neck was done which showed homogeneous collection beneath the platysma in the anterior triangle with extension into the posterior triangle. USG-guided aspiration was done and 20 ml of sanguineous fluid was drawn which was sent for culture and sensitivity. On the basis of ultrasound findings, the provisional diagnosis of vascular malformation was made, but since there was a history of fever and upper respiratory tract infection, a second diagnosis of neck abscess was also kept.
A contrast-enhanced computed tomography (CECT) of the neck was done to evaluate the swelling and to rule out any vascular lymphatic malformation. CECT of the neck showed hypodense collection in the posterior cervical space just beneath the sternocleidomastoid in inter- and intramuscular compartment of the sternocleidomastoid and levator scapulae, measuring 2.5 cm × 1.7 cm × 4.1 cm, reaching up to the carotid space suggestive of hematoma [Figure 2].
|Figure 2: Contrast-enhanced computed tomography scan of the neck axial and coronal view shows homogeneous collection reaching up to the carotid space|
Click here to view
Intravenous antibiotics (amoxicillin/clavulanate 90 mg/kg/day divided q8h and metronidazole 30 mg/kg/day divided q8h) were started in suspicion of neck abscess. Blood culture was done which was sterile. On day 1 of admission, the patient also developed knee swelling in the leg in which broomstick cast was applied. An urgent ultrasound was ordered which showed homogeneous collection in the left knee, and on aspiration, 2 ml of serosanguineous fluid was aspirated from the left knee and sent for counts, staining, and culture which came sterile. Based on the new development in the knee, the hematology opinion was taken to rule out coagulation disorder. Investigations like serum fibrinogen, thrombin time, Bleeding time, clotting time, peripheral smear and repeat PT, APTT and INR were done. Serum fibrinogen came out to be 124 mg/dl (normal: 200–400 mg/dl), and the rest was within normal limit WNL (PT = 10.1, APTT = 23.6, INR = 0.87). With this clinical presentation and laboratory findings, a diagnosis of congenital hypofibrinogenemia was made, and the patient was started on cryoprecipitate transfusion 4 units/day for 3 days. On day 7, serum fibrinogen was repeated and it was 283 mg/dl and in the meantime; the swelling had clinically decreased [Figure 3]. The patient was monitored for any posttransfusion reaction and was discharged in a clinically satisfactory condition. The patient was symptom-free on a follow-up of 4 months.
| Discussion|| |
Cervical hematomas are generally caused due to surgery, trauma, and tumors. Bleeding diathesis is also associated with spontaneous hematomas, and sometimes, they are precipitated due to intrinsic factors such as prolonged coughing, sneezing, and vomiting. There are reports of the floor of the mouth and neck swelling due to acquired factor VIII deficiency. During our literature search, we were able to find only one case report who had presented with primarily submental swelling and oral bleeding due to hypofibrinogenemia. Our case differs from this in terms of presentation and second in terms of postnatal history. In the case presented by Rahman et al., a child had a history of bleeding from umbilical stump, but our case had no history of bleeding diathesis. In our case, it was the appearance of hemarthrosis which had given us a clue and led us to think in terms of congenital coagulation disorder. Mild spontaneous bleed, ecchymosis, subcutaneous hematomas, or first trimester abortions are the common presentations in cases with hypofibrinogenemia. Our case differs because it appeared with primary neck swelling and there was a history of upper respiratory infection which led us to think in terms of acute suppurative lymphadenitis. Patients with bleeding disorders may present in the outpatient department or emergency department with variable presentation as with this case as sudden onset neck swelling without any history of trauma or surgery. According to the European Network of Rare Bleeding Disorders, Grade III bleeding (defined as spontaneous major bleeding including hematomas, hemarthrosis, central nervous system, gastrointestinal, and umbilical cord bleeding) is seen in over 40% of individuals with afibrinogenemia or hypofibrinogenemia. Since the patient's father had similar complaints, there is a possibility of dysfibrogenemia with hypofibrinogenemia. Lymphangioma, cystic hygroma, and vascular malformations are common differential diagnosis in such cases. According to the UK guidelines, a dose of 50 mg/kg is required to increase the fibrinogen concentration of 1 g. Since the viral inactivation process is, in general, not as efficient for cryoprecipitate and fresh frozen plasma (FFP) as it is for fibrinogen concentrates, therefore fibrinogen concentrate is the treatment of choice. Since we had no availability of fibrinogen concentrates at our center and after explaining the patient attendant and giving them option of referral, the combined of starting the cryoprecipitate transfusion was taken. Treatment with either FFP (40 × body weight × [desired fibrinogen-patient's fibrinogen]/l00) or cryoprecipitate (225–250 mg of fibrinogen/bag) is also effective. There are few prospective trial data to define the optimal use of cryoprecipitate; therefore, its use should be reserved for patients with documented isolated hypofibrinogenemia. Although the patient had congenital abnormalities such as cerebral palsy which may be secondary to ABO incompatibility, no association with hypofibrinogenemia was found during literature search.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest
| References|| |
Peyvandi F. Epidemiology and treatment of congenital fibrinogen deficiency. Thromb Res 2012;130 Suppl 2:S7-11.
de Moerloose P, Casini A, Neerman-Arbez M. Congenital fibrinogen disorders: An update. Semin Thromb Hemost 2013;39:585-95.
Schrøder KE, Mair IW. Spontaneous haematoma in the head and neck. J Laryngol Otol 1978;92:215-21.
Al-Hilou A, Reid J, Kelly R, Ong TK. Acquired factor VIII deficiency presenting as a floor of the mouth swelling. BMJ Case Rep 2011;2011. pii: bcr0520114235.
Rahman M, Lrshadullah N. Begum M. A case of hypofibrinogenemia presenting with submental hamatoma. Bangabandhu Sheikh Mujib Med University J 2016;7:65.
Kumar H, Sivadas P, Lakshmanan C, Bhardwaj JR. Hypofibrinogenemia (A report of two cases). Med J Armed Forces India 1994;50:291-2.
de Moerloose P, Neerman-Arbez M. Treatment of congenital fibrinogen disorders. Expert Opin Biol Ther 2008;8:979-92.
Awasthy N, Aggarwal KC, Gupta H, Saluja S. Congenital hypofibrinogenemia. Indian Pediatr 2004;41:185-7.
Stanworth SJ. The evidence-based use of FFP and cryoprecipitate for abnormalities of coagulation tests and clinical coagulopathy. Hematology Am Soc Hematol Educ Program 2007;1:179-86.
[Figure 1], [Figure 2], [Figure 3]