Síndrome hemofagocítica devido a sarcoidose pulmonar

Abstract

Although hemophagocytic syndrome is a rare clinical condition, it is associated with high mortality and the number of cases described in the literature has progressively increased. The diagnosis of hemophagocytic syndrome is made on the basis of a finding of hemophagocytosis. Sarcoidosis is a highly prevalent disease whose course and prognosis might correlate with the initial clinical presentation and the extent of the disease. We report the case of a patient with long-standing sarcoidosis who presented with intermittent fever and fatigue. The diagnosis of hemophagocytic syndrome was made by bone marrow aspiration, and specific treatment was ineffective. This is the third case of sarcoidosis-related hemophagocytic syndrome reported in the literature and the first reported in Latin America. All three cases had unfavorable outcomes.Keywords: Lymphohistiocytosis, hemophagocytic; Ferritins; Sarcoidosis, pulmonary; Macrophage activation syndrome. ResumoEmbora seja uma condição clínica rara, a síndrome hemofagocítica é associada com alta mortalidade e o número de casos descritos na literatura vem aumentando progressivamente. O diagnóstico de síndrome hemofagocítica depende da presença de hemofagocitose. A sarcoidose é uma doença de alta prevalência cujo curso e prognóstico podem correlacionar-se com a apresentação clínica inicial e a extensão da doença. Relatamos o caso de um paciente com sarcoidose de longa duração que apresentava febre intermitente e fadiga. O diagnóstico de síndrome hemofagocítica foi realizado por aspirado de medula óssea, e o tratamento específico foi ineficaz. Trata-se do terceiro caso de síndrome hemofagocítica relacionada a sarcoidose na literatura mundial e o primeiro na literatura latino-americana. Os três casos tiveram desfecho desfavorável. blood workup revealed leukocytosis (neutrophils, 32%). Anemia and thrombocytopenia were found. Electrolytes, creatinine, and urea were normal, and blood and urine cultures were negative (Table 1). The patient was hospitalized for further investigation. He had a medical history of diabetes and dyslipidemia but reported no allergies, blood transfusions, smoking, or alcohol consumption. DescritoresAt admission, the patient was febrile (39°C) and a little anxious. He had no jaundice, rash, or lymphadenopathy. His blood pressure was 130/70 mmHg, his RR was 21 breaths/min, his SaO 2 was 96%, and his HR was 88 bpm. Cardiovascular examination was normal. Pulmonary examination revealed normal breath sounds. Physical examination was otherwise unremarkable. Laboratory test results at admission were similar doses of prednisone (10 mg/day) in order to control the activity of the disease. The patient had been well until March of 2010, when he had episodes of fever. He received emergency room treatment, the amoxicillin-clavulanate combination having been prescribed. The fever did not subside. Ten days later, the patient sought emergency room treatment again (in the same emergency room) and received levofloxacin. The fever persisted, followed by mild dyspnea, a...

Hemophagocytic Lymphohistiocytosis Complicating Systemic Sarcoidosis

“…Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome. It was first described in 1939 and is characterized by histiocyte proliferation and hemophagocytosis, which presents as cytopenia, fever, and hepatosplenomegaly [ 1 - 2 , 5 ]. HLH can be classified according to the cause as primary HLH, which is due to genetic mutations, or secondary HLH, which is due to infections, autoimmune diseases, or malignancies [ 1 ].…”

“…Primary HLH is typically a pediatric disorder, and most cases present in the first two years of life. The disease has an incidence of 1/50,000 live births and exhibits an autosomal recessive inheritance pattern [ 1 - 2 ]. There are five known types of primary HLH known as familial hemophagocytic lymphohistiocytosis (FHL), which are caused by mutations at specific gene loci.…”

“…Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome, which results from histiocyte proliferation and extensive hemophagocytosis as a result of a hyperinflammatory response [ 1 ]. HLH can be classified as primary HLH, which is caused by genetic defects, or secondary HLH, which is caused by infections, malignancies, or rheumatic diseases [ 2 ]. Both primary and secondary HLH exhibit the same presentation of fever, hepatosplenomegaly, and pancytopenia [ 1 - 2 ].…”

“…HLH can be classified as primary HLH, which is caused by genetic defects, or secondary HLH, which is caused by infections, malignancies, or rheumatic diseases [ 2 ]. Both primary and secondary HLH exhibit the same presentation of fever, hepatosplenomegaly, and pancytopenia [ 1 - 2 ]. The diagnosis and treatment of most HLH cases are performed by a protocol released by the Histiocyte Society called HLH-2004 (previously HLH-94) [ 3 ].…”

“…Recently, MAS has been increasingly reported with other systemic diseases, such as systemic lupus erythematosus (SLE) and Still’s disease [ 1 ]. Sarcoidosis is a chronic systemic granulomatous disease that has different presentations [ 2 ]. The association between HLH and sarcoidosis is rare and not well reported.…”