Clinicopathological conference: A 29‐yr‐old man with recurrent episodes of fever, abdominal pain, and vomiting

Abstract

A 29-yr-old man was admitted to the hospital because of fever, abdominal pain, nausea, and vomiting of 2 days' duration.The abdominal pain was colicky in character; it did not radiate to the back or flanks; there were no aggravating or relieving factors. He vomited 8-10 times daily a mixture of food and bile. He had 3-4 loose stools per day which did not contain blood or mucous. There was no hematemesis, melena, or hematochezia. The fever was remittent, the highest temperature spikes rising to 103°F; there were no accompanying chills or rigors.He had been hospitalized several times in the past with similar symptoms, which invariably abated 5 days after admission. Multiple laboratory tests and biopsies had been done during these hospitalizations. He had palpably enlarged cervical lymph nodes. A cervical lymph node biopsy showed an increased number of histiocytes with strongly PAS-positive granules. He had persistent normochromic normocytic anemia; serum iron levels and total iron binding capacity were low; two bone marrow biopsies were done, one of which showed diminished iron stores; the stool was guaiac negative; there was no hematuria; the reticulocyte count, serum haptoglobin, and

Psychological aspects of patients with Fabry disease

“…Having little confidence in medical science, some FD patients become sullen, withdrawn, and fatalistic (Kolodny and Pastores 2002). In earlier studies, the rates of divorce, suicide, alcoholism, and unemployment were high among FD men (Abreo et al 1984). In current work, the prevalence of depression in FD patients is found to be approximately 43%, a rate higher than that of the general population (Cole et al 2007).…”

Cardiovascular Involvement in Metabolic Diseases

“…Lysosomal GSD simulating GSD II with normal acid maltase have been described in some families [14^16]. Age at onset varies between 2 1 2 and 19 years, and males are more severely a¡ected than females. Myopathy, which may not be clinically apparent; nonobstructive hypertrophic cardiomyopathy, which can cause sudden death; and an ECG with both right and left ventricular hypertrophy; thickening of the septum and left ventricular wall; and mental retardation characterize this disorder.…”

“…Ochronotic pigment is deposited in cartilage, skin, sclerae, as well as the heart valves (F|gure 1) and valvular annuli, especially the mitral and aortic valves, the endocardium, the aorta, and the coronary arteries. The atherosclerotic process is accelerated by the deposition of ochronotic pigment; a frequent mode of death in patients with alkaptonuria is myocardial infarction [1,2]. The melanin-like pigment is deposited both intra-and extracellularly.…”

Cardiovascular Involvement in Metabolic Diseases

“…The atherosclerotic process is accelerated by the deposition of ochronotic pigment; a frequent mode of death in patients with alkaptonuria is myocardial infarction [1,2]. Ochronotic pigment is deposited in cartilage, skin, sclerae, as well as the heart valves (F|gure 1) and valvular annuli, especially the mitral and aortic valves, the endocardium, the aorta, and the coronary arteries.…”

“…The atherosclerotic process is accelerated by the deposition of ochronotic pigment; a frequent mode of death in patients with alkaptonuria is myocardial infarction [1,2]. Cardiomyopathies may be primary or idiopathic or secondary due to an underlying de¢nable systemic disorder.…”