Abstract

Successful pregnancy is a rare phenomenon in women with Wilson’s disease (WD).  We report a case of a primigravid 19 -years old woman who presented with hemolytic anemia and was later diagnosed with Wilson’s disease for the first time during pregnancy. With prompt treatment, she delivered a healthy albeit pre-term child.

Keywords: Anemia, Hepatitis, Jaundice, Pregnancy,  Wilsons disease

Consent:  Written informed consent was obtained from the patient to publish this report in accordance with the journal's patient consent policy.

Wilson’s disease, also known as hepatolenticular degeneration, is an autosomal recessive disorder of defect in copper transport due to a mutation in the adenosinetriphosphatase copper transporting beta (ATP7B) gene. Impaired copper transport results in the accumulation of copper in the liver, brain, and cornea, thereby causing symptoms. It presents as liver disease, neurological, neuropsychiatric symptoms, and non-immune hemolytic anemia [1]. Kinnier Wilson first described the disease in 1912. It affects between 1 in 30000 individuals to 1 in 100,000 individuals [1,2]. The mean age at diagnosis is 13.2 years [3]. The diagnosis may be overlooked owing to its numerous presentations of non-specific symptoms of fever, fatigue, and change in behavior to fulminant hepatic failure. Kayser-Fleischer ring is found more commonly with the neurological presentation, up to 95 % of cases [4]. Hemolytic anemia, which may be seen as a distinctive clinical feature with jaundice or acute liver failure in Wilson disease, is a rare presentation in isolation [5]. The diagnosis is often based on the constellation of clinical findings, serum ceruloplasmin, urinary copper excretion, Coombs negative hemolytic anemia, and liver biopsy [5].

We report a case of a 19 years old pregnant lady who presented for the first time in her life with Coombs negative hemolytic anemia in the third trimester of pregnancy. Jaundice, as a presentation in pregnancy, can be due to hemolysis with or without hepatitis secondary to Wilson’s disease.

A 19-year-old normotensive primigravida from a rural area presented to our center in the third trimester at 30 weeks of gestation with a history of fever, yellowish discoloration of eyes and urine, malaise, generalized weakness, and fatigue for ten days. She also had moderate pain in the upper abdomen, more localized on the right side, decreased appetite, and a few vomiting episodes. She received symptomatic care as she was treated with the diagnosis of acute viral hepatitis in her local hospital initially. However, she did not have clinical improvement. She did not have a history of altered sensorium, itching, pale-colored stools, or bluish patches on the body. She never had any similar illness in the past. Movement disorders, behavioral and personality changes were not noted in the past. She had uneventful home delivery and childhood. She was good at her academic performance and there was no history of any known liver or neurological disorders in  family members.

On examination, she had pallor and icterus with no palpable lymph nodes. She had a fever of the recorded temperature of 101 degree Fahrenheit with a blood pressure of 100/60 mmHg on bilateral arms . A firm, tender liver with regular margin and surface, with a distinct border, was palpable 4 cm below the right subcostal margin. The fundal height of the patient corresponded to 28 weeks of gestation. Fetal heart sound was audible, and the rest of the systemic examinations had normal findings.

Her hemoglobin was 5 g/dl on the initial presentation at the district hospital, where she was transfused 2 pints of fresh blood. Peripheral blood smear showed a microcytic hypochromic picture with anisocytosis and poikilocytosis. Liver function test (LFT) was abnormal with unconjugated hyperbilirubinemia, transaminitis but a normal prothrombin time and international normalized ratio (PT/INR), with the platelet count always in the normal range. Her viral serology profile was send and was found to be negative . She had a high lactate dehydrogenase (LDH) value and a negative Direct-Coomb’s test. Her lab reports are mentioned in the table 1.

Table 1