Coinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing reveals.

We report the case of a man in his 50s with extravascular haemolysis, fluctuating indirect hyperbilirubinaemia, elevated transferrin saturation with hyperferritinaemia and normal liver enzymes. Spherocytes were detected in a blood smear and a mutation of unknown significance, c.1626+1G>A p.?, in intron 13 of the SLC4A1 gene, was identified by next-generation sequencing (NGS). The same mutation was found in his daughter, who presented with similar laboratory changes, confirming the diagnosis of hereditary spherocytosis. Abdominal MRI showed hepatosplenomegaly with hepatic iron overload. In this context of haemolysis (without anaemia) and iron overload, a diagnosis of haemochromatosis was presumed. NGS confirmed the presence of the variants p.(His63Asp) and p.(Cys282Tyr) in heterozygosity in the HFE gene. We report this case for the rarity of co-existing two haematological diseases counteracting each other.

Pleural AA amyloidosis preceding the diagnosis of inflammatory bowel disease / Amioloidosis AA pleural que precede el diagnóstico de una enfermedad inflamatoria intestinal

Pleural amyloidosis constitutes a rare presentation of a rare disease. We report a case of amyloidotic pleural effusion that preceded the diagnosis of inflammatory bowel disease by six months. The patient had a paucisymptomatic gastrointestinal disease but an exuberant AA amyloidosis that progressed to involve multiple organs, including lung, kidney and heart. Despite immunomodulatory treatment with corticosteroids and infliximab with good gastrointestinal response, the patient eventually passed away 2 years after diagnosis. (AU)

Fulminant Haemolysis Following Endoscopic Retrograde Cholangiopancreatography.

We report the case of a 77-year-old-man with a history of type 2 diabetes mellitus who underwent endoscopic retrograde cholangiopancreatography (ERCP) because of a gallstone in the common bile duct. Thirty-six hours after the procedure, the patient developed persistent fever and epigastric pain associated with de novo jaundice. Massive haemolysis (with exuberant spherocytosis) occurred and patient died in 3 hours. Clostridium perfringens was isolated in the blood cultures. Massive haemolysis associated with C. perfringens has a high mortality rate. Management involves a high index of suspicion after gastrointestinal procedures like ERCP, surgical consultation, antibiotic therapy, transfusion of red cell concentrates and, potentially, hyperbaric oxygen therapy. LEARNING POINTS: Endoscopic retrograde cholangiopancreatography (ERCP) can be complicated by Clostridium perfringens bacteraemia with devastating consequences.C. perfringens infection should be suspected in an icteric, febrile patient with abdominal pain, especially if intravascular haemolysis is present.Management of intravascular haemolysis and inflammation in a patient following ERCP should be multidisciplinary, involving surgery when needed and potentially hyperbaric oxygen therapy; penicillin or penicillin-derived antibiotics associated with clindamycin or metronidazole are the mainstays of antibiotic therapy.

Disseminated Tuberculosis With Cardiac Tamponade in an Immunocompetent Individual.

We report a case of disseminated tuberculosis with cardiac tamponade in a 26-year-old man from northern Portugal. He was imprisoned for one year before the diagnosis and had no known immunosuppressing conditions. A high level of suspicion with a detailed review of risk factors and exposure history (e.g., in this case, imprisonment is a risk factor for tuberculosis) is necessary when pursuing a diagnosis of extrapulmonary tuberculosis and treatment should be started as soon as possible when life-threatening manifestations occur. We used a 12-month course of antituberculosis agents associated with steroids, in our case. The patient had a good clinical response and no signs of disease at the end of the treatment.

When Should Statins Be Stopped?

Mycobacterium chelonae is a non-tuberculous mycobacterium that can cause skin infections in immunocompetent individuals. We report a case of skin infection by this agent in a woman with dyslipidaemia, that culminated in statin-induced rhabdomyolysis due to the combination of clarithromycin, ciprofloxacin and simvastatin. LEARNING POINTS: Skin infection with Mycobacterium chelonae is an increasing global problem among immunocompetent individuals.Statin-induced rhabdomyolysis is an important and avoidable end-result of drug-drug interaction.Inhibition of cytochrome P450 isoenzyme 3A4 and of organic anion transporting polypeptide 1B1 are two important examples of statin interference with metabolism, and clarithromycin can inhibit both.

Severe Acute Liver Injury Related to Heat Stroke.

Heat stroke (HS) is a life-threatening condition characterized by hyperthermia and multiple organ failure. Mild to moderate hepatocellular injury is a well-documented complication but severe liver injury and acute liver failure are rare. There are neither established criteria nor optimal timing for liver transplantation and conservative management seems to be the cornerstone treatment. The authors report a case of a patient with severe liver injury related to HS who recovered completely under conservative treatment. LEARNING POINTS: Hyperthermia, neurologic dysfunction and recent exposure to hot weather or physical exertion should raise the suspicion of heat stroke (HS).Fast and effective cooling is the cornerstone of treatment, along with support of organ dysfunction. Antipyretics have no role in HS management.Conservative treatment has been described as being successful in the management of patients with HS that manifest severe acute liver injury (ALI) and acute liver failure (ALF). However, early referral to a liver transplantation centre is essential to guide treatment.