Acquired Haemophilia A: A Serious and Often Unrecognized Disease

Case Presentation

Thromb Haemost Res. 2017; 1(1): 1003.

Acquired Haemophilia A: A Serious and Often Unrecognized Disease

Doris Barcellona*, Federica Battolu, Antonella Mameli and Francesco Marongiu

Department of Medical Science and Public Health, University of Cagliari, Italy

*Corresponding author: Barcellona Doris, Department of Medical Science and Public Health, University of Cagliari, 09042 Monserrato, Cagliari, Italy

Received: June 19, 2017; Accepted: August 08, 2017; Published: August 18, 2017

Abstract

Acquired Hemophilia A (AHA) is caused by autoantibodies against factor VIII inducing an increase in the risk of spontaneous bleeding or haemorragies secondary to trauma, surgery or invasive procedure.In about half of the patients the cause of AHA is unknown and the mortality is up to 20%. It is a rare coagulation disorder that affect about 1.5 patients/million/year most of whom are elderly, aged 60 years or more. Haemorrhagic manifestations, located in soft tissues and muscles, expecially in the elderly with a negative bleeding history, concomitantly with a prologed aPTT are the main characteristic of the disesease. In this paper we describe the history of a patient whose diagnosis of AHA has been made with a delay of about five months after several hospital admissions. AHA is not easy to recognize if clinicians did not known the patophysiology, laboratory and clinical appearance of thecoagulative disorders, and diagnosis is often delayed. Early suspicion, investigation, and confirmation of AHA are very important in order to avoid more serious bleeding,invasive approaches and waste of financial resources. Early diagnosis is crucial, and early treatment to control bleeding and to eradicate inhibitors can be life-saving. To help clinicians to prompt identify AHA it should be organized a periodical reminds on this rare disease which can cause mortality if the diagnosis is not made as early as possible.

Keywords: Acquired haemophilia A; Prolonged aPTT; Inhibitor of coagulativefactor VIII

Case Presentation

The patient, a male 84 years old, in January 2017 was hospitalized at the Gastroenterology Unit of a city hospital for the appearance of rectorrhagia and aright extensive subconjunctival hemorrhage. The clinical history showed that the patient was suffering from diverticulosis of the colon and a prostatic adenocarcinoma treated with radiation therapy that had caused an actinic colitis. The followup (8 years) was negative for neoplastic disease. At the admission, the patient presented anemia (Hb 8.5 g/dl) a normal platelet count (259 x 109/L), white blood cells (5.6 x 109/L), and PT INR (1.11) while aPTT was significantly prolonged, 84 seconds with a ratio of 2.9(normal reference values: 20-38 sec and 0.8-1,30 ratio). Colonoscopy showed abundant coagulated blood in the rectum, the sigma and the descending colon with the presence of known diverticula, but the source of bleeding was not identified. The echography of the right ocular bulb showed a bilateral haemorrhagic effusion of about 1.0 cm, without evidence of retrobulbar expansive lesions. The CT total bodyconfirmed the hemorrhagic collections at the right subconjunctival site and showed the presence of mild ascites without evidence of phlogistic lesions, or neoplastic diseases. The patient was transfused with 9 units of packed red cells since anemia worsened and after 22 days of hospitalisation was discharged with the diagnosis of anemia in patients with actinic colitis and diverticulosis of the colon.

After 4 days from the discharge the patient was again hospitalized for intense asthenia and disorientation. Anemia was still present (Hb=8.6 gr/dl), platelet, white blood cells and PT INR were normal but aPTT was further prolonged (127 seconds with a ratio of 4.4). The patient was transfused again with 1 units of packed red cells and again discharged. After 13 days Hb values were unchanged, aPTT was still prolonged (73seconds, ratio 2.5).

In March 2017 the patient came to a Hospital Emergency Room of a city hospital for a head trauma with scalp bruising as a result of an accidental fall and was admitted to the surgery department. The CT of the skull was negative.Four days after, for the appearance of headache, nausea and vomiting, he was submitted to a new CT of the skull that shows asubarachnoidhemorrhage. Hb was low (7.5 gr/dl) but coagulative test were not carried out. The patient was again transfused with 3 packed red cells and transferred to the department of Neurosurgery where the treatment was conservative. CTdocumented an almost total disappearance of subarachnoid bleeding and the persistence of vast bruising of the soft tissues in the left parietal side. Hewas discharged after 9 days with the diagnosis of anemia an cerebral left parietal contusion.

On 29 April 2017 the patient was admitted to the Emergency Department of another city hospital for the appearance of a large hematoma of the left hemithorax and then transferred to the Department of Internal Medicine. At the entrance he showed Hb=6.4 gr/dl, platelet count=176 x 109/L, white blood cells=8.9 x109/L, PT=1.19 INR and aPTT=54 seconds with ratio of 1.9. The patient was tranfused with 6 unit of packed red cells. Hemoglobin raised up to 9.6 gr/dl. Factor VIII was 10 %. The CT total body showed extensive bruising of soft tissues mainly shoulder girdle and in the left hemithorax and a bilateral pleural effusion more evident in the left. Acquired haemophilia was eventually suspected and treatment with methil prednisolone (120 mg/day) was started concomitantly with tranexamic acid, both i.v..

The patient was then transferred to our Internal Medicine Unit. At the entrance the patient showed a extended haematoma (12 cm) of the left breastplate muscle (Figure 1) and extensive bruising of the upper ipsilateral limb and of the left hemithorax, hemorrhagic bubbles were present at both the upper limbs (Figure 2), a vast hematoma was present in the left flank of the abdomen (Figure 3). The bloodchemistry examinations showed Hb=10 gr/dl, platelet count=223 x109/L, PT=1.14 INR and a prolonged aPTT=49 seconds with ratio of 1.62. The mixing test of the aPTT with normal plasma showed no correction of the test that remained prolongedat 120 minutes with a ratio of 1.52. The dosage of factor VIII was 21% while the inhibitor was high (26 Bethesda Units). The therapy with methil prednisolone (120 mg/day) and tranexamic acid (3 gr/day) i.v. was confirmed. After 8 days the patient presented a new episode of rectorrhagia with subsequent anemia, (Hb=8.9 gr/dl), aPTT=55 seconds with ratio of 1.83, and factor VIII of 14%.A new thorax and abdomen CT showed an increase in the size of the large haematoma of the left hemithorax (14x9,5 cm), a bilateral pleural effusion and perihepatic, perisplenic and pelvic effusion. The colonscopy showed multiple telangiectasias of the rectum. He was transfused again with 2 unit of packed red cells. An haemostatic by-passing agent was started (aPCC, FEIBA, 3000 U every 8 hours) associated with Ciclofosfamide 100 mg/day p.o. which was suspended after 13 days for the appearance of bone marrow cytotoxicity. The factor VIII gradually increased and the patient did not show any other bleeding. He was discharged by our department after 34 days,the aPTT was 47 seconds with a ratio of 1.55, factor VIII was 51%. The suggested therapy was metil prednisolone 50 mg/day p.o.and anoutpatient clinic follow-up was planned.