Periodic fever syndrome

Mevalonate kinase deficiency. Mevalonate kinase and farnesyl-diphosphate synthase are localized in the peroxisome and are involved in the synthesis of isoprenoids. Mevalonate kinase deficiency causes severe developmental delay, dysmorphic features and early death. Mevalonate deficiency has also been observed in the hyperimmuno-globulinemia-and periodic fever syndrome. 

Fig. 5.1.1 Isoprenoid biosynthetic pathway. The enzyme mevalonate kinase (black solid bar) is deficient in patients affected with mevalonic aciduria and hyperimmunoglobulinemia D and periodic fever syndrome. -CoA -Coenzyme A, HMG-CoA 3-hydroxy-3-methyl-glutaryl-coenzyme A, -PP -pyrophosphate...

Table 5.1.1 Inherited disorders of isoprenoid/cholesterol biosynthesis. CDPX2 Conradi-Hunermann syndrome, CHILD congenital hemidysplasia with ichthyosiform nevus and limb defects, HEM hydrops-ectopic calcification-moth-eaten, MA/HIDS mevalonic aciduria/ hyperimmunoglobulinemia D and periodic fever syndrome, MIM Mendelian Inheritance in Man... 

Houten SM, Frenkel J, Waterham HR (2003) Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci 60 1118-1134... 

Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine 1994 73(3) 133. 

Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT. Mutations in MVK, encoding mevalonate kinase, cause hyper-immunoglobulinaemia D and periodic fever syndrome [see comments]. Nat Genet 1999 22(2) 175. 

Treatment with specific antibodies (ALG, ATG, anti-CD3, anti-CD25) is indicated during the induction phase after transplantation and in the case of acute rejection for short time periods. Therapy with nonhuman antibodies may cause sensitization. Muromonab-CD3 might initiate a cytokine release syndrome (fever, chills, headache). 

In favor of the endotoxin theory is the demonstration that endotoxins are active if administered by aerosol (62,64), as is the agent of byssinosis. In a rabbit model, inhalation of either endotoxin or cotton dust extract produces histological patterns consistent with chronic bronchitis (65). Also, in a variety of animal species, fever and dyspnea occur after short periods of inhalation of endotoxins, but when endotoxin solutions are Inhaled on two consecutive days, the second Inhalation is without effect. This suggests tolerance to endotoxins, and parallels the Monday syndrome, characteristic of byssinosis (62). 

A syndrome known as mill fever, which may or may not be related to the development of byssinosis, has been described in some persons unaccustomed to breathing cotton dust. Shortly after exposure, there is development of malaise, cough, fever, chills, and upper respiratory symptoms these may recur daily for days to months until acclimatization takes place and symptoms disappear. TTlerance may be lost temporarily after a period of absence from exposure, or if exposure to a greater concentration of dust occurs. The exact prevalence of mill fever among new employees is unknown, but estimates range from 10% to 80%. ... 

Hepatitis occasionally occurs in patients after clinical anesthesia. Typically, 2-5 days after anesthesia, a fever develops, accompanied by anorexia, nausea, and vomiting. There may be a progression to hepatic failure, and death occurs in about 50% of these patients. The incidence of the syndrome is 1 in 10,000 anesthetic administrations, and it is seen most often after repeated administration of halothane over a short period of time. 

The third condition, late respiratory systemic syndrome, is characterized by cough, mucus production, occasional wheezing, and systemic symptoms of malaise, chills, fever, and aching muscles and joints, occurring 4—12 hours alter exposure. This syndrome also has been termed TMA flu and clinically resembles hypersensitivity pneumonitis with visible chest X-ray infiltrates. High levels of IgG serum antibody and total serum antibody directed against trimellityl-human protein conjugates accompany the syndrome, and a latent period of exposure before the onset of symptoms is typical. 

Kawasaki disease (mucocutaneous iymph node syndrome) For acute febrile period, 80 to 180 mg/kg/day very high doses may be needed to achieve therapeutic levels. After the fever resolves, dosage may be adjusted to 10 mg/kg/day. 

Similar to enteric viruses, protozoa require a suitable host for replication but can persist within nonhost environments for significant time periods (Sidhu and Toze, 2009). The main source of human protozoan is from direct contact with humans although foodbome sources can also represent a significant vehicle (Sidhu and Toze, 2009 Thompson et al., 2008). All of these human pathogenic protozoa cause diarrhea-like symptoms except Toxoplasma, which causes fetal damage and glandular fever-like syndrome (Dumetre and Darde, 2003). 

Hepatitis A infection usually results in an acute, self-limited disease that rarely leads to fulminant hepatic failure. The clinical features of acute hepatitis A are summarized in Table 40-1. After an average incubation period of 28 days, with a range of 15 to 50 days, symptomatic individuals will experience an abrupt onset of anorexia, nausea, vomiting, malaise, fever, headache, and right upper quadrant abdominal pain. Patients with underlying liver disease such as chronic hepatitis C infection are more likely to develop fulminant hepatic failure. Clinical symptoms also vary with age. Children younger than 6 years old are usually asymptomatic or have a mild influenzalike illness without clinical jaundice. In conhast, more than 70% of infected adults and older children display the characteristic clinical syndrome of acute hepatitis with elevated hepatic transaminase levels and jaundice. ... 

Syndromic surveillance focuses on the early symptom (prodrome) period before clinical or laboratory confirmation of a particular disease and uses both clinical and alternative data sources. Strictly defined, syndromic surveillance gathers information about patients symptoms (e g., cough, fever, shortness of breath). 

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