Clinical challenges in the treatment of a patient with decompensated heart failure and glucose-6-phosphate dehydrogenase deficiency (G6PDd).

We present a case of a man in his 60s, known with glucose-6-phosphate dehydrogenase deficiency (G6PDd) and cor pulmonale, admitted to the department of cardiology due to cardiac decompensation and anaemia. The main complaint was dyspnoea. Echocardiography confirmed severe cor pulmonale with compression of the left ventricle. G6PDd has been linked with pulmonary hypertension which could contribute to aforementioned echocardiographic findings. Diuretics are the first line of treatment when it comes to cardiac decompensation, but sulfonamide diuretics can induce or exacerbate haemolysis in patients with G6PDd. Due to the respiratory distress of the patient, a treatment plan including sulfonamide diuretics was initiated in collaboration with the haematologists. Unfortunately, the patient died 2 days after admission. This case emphasises that not all cardiac patients can tolerate standard treatment with sulfonamide diuretics; despite this, they remain essential in the acute setting, and they are associated with foreseeable but only partly manageable complications in susceptible patients.

Early Mortality in Paroxysmal Nocturnal Hemoglobinuria.

OBJECTIVES:  The elevated mortality risk among patients with paroxysmal nocturnal hemoglobinuria (PNH) has been suggested to derive from a high risk of thromboembolism (TE); however, the risks of coexisting cardiovascular risk factors are not well described. We studied mortality associated with PNH taking comorbidity and treatment into account. METHODS: Patients with PNH (n=115) were identified in the 1977-2016 Danish National Patient Register (DNPR). For each patient with PNH, we identified 50 age- and sex-matched general population comparators. Using the Kaplan-Meier estimator and Cox regression, we compared the overall survival of patients with comparators. Cumulative incidences were used to analyze the effects of comorbidity and the causes of death. RESULTS: One-year survival among patients and comparators was 92.2% and 99.4%, and after 10 years, it was 68.4% and 85.8%, respectively. Early mortality was associated with older age, higher levels of comorbidity, and solid malignancies prior to PNH diagnosis. The leading causes of death were infections and associated hematological diseases. Patients with early mortality were less likely to have received treatment with eculizumab and/or warfarin. Cardiovascular risk factors were evenly distributed between patients and comparators at diagnosis. CONCLUSION: We conclude that early mortality in PNH is associated with older age, cardiovascular comorbidity, and hematological malignancies.

Splenomegaly - Diagnostic validity, work-up, and underlying causes.

PURPOSE: Our aim was to assess the validity of the ICD-10 code for splenomegaly in the Danish National Registry of Patients (DNRP), as well as to investigate which underlying diseases explained the observed splenomegaly. BACKGROUND: Splenomegaly is a common finding in patients referred to an internal medical department and can be caused by a large spectrum of diseases, including haematological diseases and liver cirrhosis. However, some patients remain without a causal diagnosis, despite extensive medical work-up. PATIENTS AND METHODS: We identified 129 patients through the DNRP, that had been given the ICD-10 splenomegaly diagnosis code in 1994-2013 at Odense University Hospital, Denmark, excluding patients with prior splenomegaly, malignant haematological neoplasia or liver cirrhosis. Medical records were reviewed for validity of the splenomegaly diagnosis, diagnostic work-up, and the underlying disease was determined. The positive predictive value (PPV) with 95% confidence interval (CI) was calculated for the splenomegaly diagnosis code. Patients with idiopathic splenomegaly in on-going follow-up were also invited to be investigated for Gaucher disease. RESULTS: The overall PPV was 92% (95% CI: 85, 96). Haematological diseases were the underlying causal diagnosis in 39%; hepatic diseases in 18%, infectious disease in 10% and other diseases in 8%. 25% of patients with splenomegaly remained without a causal diagnosis. Lymphoma was the most common haematological causal diagnosis and liver cirrhosis the most common hepatic causal diagnosis. None of the investigated patients with idiopathic splenomegaly had Gaucher disease. CONCLUSION: Our findings show that the splenomegaly diagnosis in the DNRP is valid and can be used in registry-based studies. However, because of suspected significant under-coding, it should be considered if supplementary data sources should be used in addition, in order to attain a more representative population. Haematological diseases were the most common cause, however in a large fraction of patients no causal diagnosis was found.