Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Systemic mast cell disease (SMCD) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, vomiting, fever, urticaria pigmentosa, hepatosplenomegaly and lymphadenopathy. We reported a case of SMCD associated with cutaneous xanthoma and serum hyper IgE. Skin biopsy revealed xanthomas and diffuse infiltration of mast cells in the dermis. The association of SMCD with xanthoma was reported in the literature for only one case. The hyper IgE could be due to the defect of IgE receptors on the cell membrane of mast cells of dysfunction of T and/or B cell. Any of the treatment using H1 and H2 receptor blockade, disodium cromoglycate, adrenocorticosteroid or chemotherapy (VEPA) were not effective. The patient died of pulmonary edema and multiple organ failure 7 months after the diagnosis was established. The crush method for the cytological examination of bone marrow was considered more useful than smear method for the diagnosis of SMCD.
 ...
PMID:[Systemic mast cell disease associated with cutaneous xanthomas and markedly elevated serum IgE]. 224 20

Twenty-five patients with primary biliary cirrhosis (PBC) in different stages were investigated with respect to pulmonary function abnormalities. The results were compared with a reference sample of 17 sex- and age-matched healthy subjects. A high prevalence of lung function impairment was found in the PBC patients (14/25 [56%]). Bronchial asthma was present in three patients, and severe lung emphysema in one. These four patients had an abnormal lung function, mainly of obstructive type. There was a statistically significant difference between the remaining 21 PBC patients without chronic obstructive lung disease and the reference subjects with respect to diffusion capacity. Almost all abnormal lung function data were found in the symptomatic PBC patients (i.e. symptoms of pruritus, xanthoma, xanthelasmata, jaundice, hyperpigmentation, hepatosplenomegaly), 13 out of 18 (72%), whereas only one out of seven asymptomatic patients was affected. Nine patients (36%) had reduced diffusion capacity compared with none of the reference subjects. The lung function abnormalities in PBC patients are similar to those found in sarcoidosis, another granulomatous disease.
 ...
PMID:Lung function abnormalities in patients with primary biliary cirrhosis. 338 7

Necrobiotic xanthogranuloma of the skin is associated with paraproteinemia and, often, with plasma proliferative disorders, including multiple myeloma. Other commonly recognized systemic abnormalities include hepatosplenomegaly, a highly increased erythrocyte sedimentation rate, and leukopenia. Fifteen of 16 patients (seven men and nine women with a mean age of 54 years) with this condition had ophthalmic manifestations. Thirteen patients had lesions affecting the skin of the eyelids and periorbital tissue; on casual examination these lesions resembled plane xanthoma. Unlike plane xanthoma, however, the lesions of necrobiotic xanthogranuloma were almost always indurated. Further, the lesions frequently became inflamed, leading to superficial ulceration. Deeper lesions occasionally involved the orbit. Yellow lesions were sometimes visible in the episcleral tissues where they were associated with recurrent symptoms of scleritis and episcleritis. Biopsy specimens of the skin lesions disclosed a distinctive pattern of subepidermal granulomatous masses with focal aggregates of histiocytes and giant cells surrounded by hyaline necrobiosis. Surgical excision of the eyelid lesions was often followed by recurrence and increased activity of the lesions. Low-dose chemotherapy is likely to produce a favorable response, with regard to both the skin lesions and the paraprotein abnormalities.
 ...
PMID:Ophthalmic features of necrobiotic xanthogranuloma with paraproteinemia. 669 27

A case of chronic myelomonocytic leukemia (CMML) associated with primary amyloidosis (AL) is presented. Hepatosplenomegaly, macroglossia, and xanthelasma were the major physical findings. Laboratory tests showed macrocytic anemia, thrombocytopenia, monocytosis and a bi-clonal gammopathy. Early monocytes and monoblasts were noted in the bone marrow aspiration biopsy. Cytogenetic evaluation showed a clonal deletion of chromosome 21 long arm (21q-). Amyloid was present in the liver, tongue and xanthelasma. In addition, the patient was noted to have osteosclerosis of the lower extremities. Treatment with prednisone and colchicine resulted in a subjective response. The unusual association of CMML, and primary amyloidosis is discussed.
 ...
PMID:Chronic myelomonocytic leukemia associated with primary amyloidosis. 769 26

In this article, we describe a 46-year-old man with severe high-density lipoprotein (HDL) deficiency and his kindred. In the proband, HDL cholesterol and apolipoprotein (apo) A-I levels were 5 and 4.5 mg/dL, respectively. Xanthomata, xanthelasma, arcus corneae, and hepatosplenomegaly were not present. The proband had coronary artery disease, but it was impossible to state whether the HDL deficiency cosegregated with premature coronary artery disease in this kindred. Pedigree analysis was suggestive of a codominant familial disease. Polymerase chain reaction amplification of the apoA-I gene of the proband, followed by subcloning and sequencing, did not reveal any mutation in either the coding regions or intron-exon junctions. A kinetic study using deuterated leucine to endogenously label apoA-I was performed to elucidate the metabolic basis of the apoA-I deficiency. We demonstrated marked hypercatabolism of apoA-I in the proband, with a fractional catabolic rate more than 10 times faster than normal; the plasma residence time of apoA-I in the proband was only 0.38 day compared with 4.10 days in a control subject. The apoA-I production rate was also substantially decreased in the proband. The association of a normal apoA-I gene sequence with marked hypercatabolism of apoA-I is similar to that described in Tangier disease. However, except for the presence of mild, diffuse, corneal deposits, this patient had no evidence of the reticuloendothelial cholesterol deposition characteristic of Tangier disease. This study establishes that a form of severe hypoalphalipoproteinemia distinct from Tangier disease can be caused by marked hypercatabolism of a normal A-I apolipoprotein.
 ...
PMID:Familial HDL deficiency due to marked hypercatabolism of normal apoA-I. 836 14

A 41-year-old female patient with muscle dystrophy, hepatosplenomegaly and tendinous xanthoma showed mild hypertriglyceridemia. The lipoprotein profile in blood showed increases in triglycerides in VLDL and LDL, and a marked decrease of cholesterol in HDL. Chylomicronemia was found, but was not severe. Both lipoprotein lipase and hepatic triglyceride lipase activities were reduced to a level that was only a few percent of the control. Immunoblotting study revealed that the IgG autoantibody in her serum was apparently reactable with hepatic triglyceride lipase and weakly with lipoprotein lipase. Hypertriglyceridemia in this patient is suggested to be due to the autoantibody to these lipases.
 ...
PMID:Hypertriglyceridemia caused by the autoantibody to lipases for plasma lipoproteins: a case report. 922 11

Progressive nodular histiocytosis is a proliferative process of histiocytes, the main element of which is the dermal dendrocyte. It is considered to form part of a group of histiocytic disorders related to juvenile xanthogranuloma, which also includes xanthoma disseminatum, benign cephalic histiocytosis, spindle cell xanthogranuloma and generalized eruptive histiocytosis; disorders which perhaps represent the spectrum of one single entity. We present the case of a 57-year-old man who, for 26 years, had had a progressively deforming process of cutaneous lesions, with systemic involvement, including chronic myeloid leukaemia, hepatosplenomegaly, hypothyroidism, hyperuricaemia and hypocholesterolaemia. We have not been able to establish precisely the relationship between these features.
 ...
PMID:Progressive nodular histiocytosis accompanied by systemic disorders. 1153 23

Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive inherited disorder, characterized by marked hypertriglyceridemia, eruptive xanthoma, hepatosplenomegaly, recurrent attacks of pancreatitis, and markedly low or absent LPL activity in postheparin plasma. A majority of LPL deficient patients have been reported to have point mutations in the LPL gene; however, we find a complex deletion-insertion mutation by Alu elements, mobile retrotransposons, in a patient with LPL deficiency. This patient suffered from acute pancreatitis, showed chylomicronemia and lacked detectable LPL activity or mass in her postheparin plasma. Southern blot analysis and long-range PCR of the patient's DNA demonstrated a 2.2-kb deletion encompassing exon 2. Sequence analysis revealed (1) a 2.3-kb deletion between an AT-rich region adjacent to an Alu element in intron 1 and another Alu element in intron 2; (2) an insertion of approximately 150bp 5'-truncated Alu sequence with a poly (A) tail at the deletion point. The inserted sequence belongs to Alu Yb9, the youngest subfamily of Alu elements. The deletion occurred at the consensus cleavage site (3'-A|TTTT-5') without target site duplication. These findings indicated that Alu retrotransposition caused the complex deletion-insertion. The patient was homozygous for this complex mutation, which eliminates exon 2 and leads to LPL deficiency. To our knowledge, the patient is the first case with LPL deficiency due to a complex deletion-insertion mediated by Alu repetitive elements.
 ...
PMID:A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency. 1770 45