[A case of intestinal Behçet's disease with abnormal ossification complicated by myelodysplastic syndrome, symptoms revealed after the perforation of ileum ulcer].

A 39-year-old man, who had been treated with Etretinate for common wart since he was 29 years old, was admitted to Taga General Hospital complaining of gradually deteriorating lumbago and bilateral hip joints pain in September, 1996. His lower vertebrae and bilateral hip joints showed abnormal ossification on X-ray. The bone scintigraphy indicated the existence of sacroiliitis. His platelet counts were fluctuating between 8 x 10(4) and 9 x 10(4)/mm3. During the follow-up in our out-patient clinic, he was suddenly suffered from severe abdominal pain in August, 1997 and admitted to our hospital. An emergency operation revealed multiple ulcers of his ileum with several perforations. Histological findings of the specimen of the ileum showed simple ulcer. After the operation, he had oral and genital ulcers. He did not have any signs or symptoms of ocular involvement. He was diagnosed as intestinal Behçet's disease. Because he showed gradually pancytopenia for several months after the operation, bone marrow aspiration was performed and a diagnosis of refractory anemia, a type of myelodysplastic syndrome (MDS), with trisomy of chromosome 8 was made. Abnormal ossification of his vertebrae and hip joints were considered to be related to Behçet's disease because an coexistence with sacroiliitis. On the other hand, there is no denying the effects of orally Etretinate administration. Several cases have been reported the association of MDS with Behçet's disease. In this case, the existence of MDS or various symptoms in Behçet's disease became apparent after the perforation of ileum ulcer. This paper discusses possible etiology of the relation between Behçet's disease and MDS, or the characteristic clinical course in this case.

Dilated cardiomyopathy (DCM) associated with SSA antibody in primary Sjögren syndrome.

Abstract A 33-year-old Japanese woman was diagnosed with primary Sjögren syndrome (SS) in 1995. At this time, SSA antibody had not been detected by the Oucterlony or EIA methods. Two years later, the patient developed dyspnea. A chest X-ray showed cardiomegaly. An echocardiogram indicated severe diffuse hypokynesis of the cardiac wall with a left ventricular ejection fraction of 32%. Positive SSA antibody (over 500 u/ml) was noted in her serum as measured by the EIA method. We considered her cardiac manifestation to be dilated cardiomyopathy associated with primary SS.

[A case of systemic lupus erythematosus (SLE) with a neurogenic bladder, successful treatment with intravenous cyclophosphamide pulse therapy].

A 46-year-old woman was diagnosed as having systemic lupus erythematosus (SLE) in 1990 and was treated with a daily maintenance dose of prednisolone (PSL). She suddenly developed urinary incontinence with a high grade fever and erythema of the arms and legs on May 10, 1998 and was admitted to our hospital. Laboratory findings on admission showed proteinuria, pancytopenia and hypocomplementemia. Anti-nuclear antibody, anti-DNA antibody and anti-Sm antibody were positive. Ultra-sonography after urination revealed dilatation of the bladder. Cystometrography showed an autonomous neurogenic bladder. The diagnosis of neurogenic bladder complicated by peripheral neurone disturbance associated with recurrence of SLE was made and intravenous methylprednisolone (m-PSL) pulse therapy (1000 mg/day) was initially administered for 3 days followed by 60 mg of daily per os PSL. Urinary incontinence did not improved. The same therapy was conducted 3 times with no response. Therefore, treatment was started with intravenous cyclophosphamide pulse therapy (500 mg/day) which resulted in marked improvement of urinary incontinence, hypocomplementemia, proteinuria and pancytopenia. This case developed a neurogenic bladder caused by lower neurone disturbance but did not show central nervous system lupus with upper neurone disturbance. Neurogenic bladder caused by lower neurone disturbance in SLE has rarely been reported. The vasculitis of SLE was probably responsible for this neuropathy and this case was successfully treated with intravenous cyclophosphamide pulse therapy.

Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis.

To examine whether polymorphism at the SAA loci is associated with the development of amyloid protein A (AA)-amyloidosis, we determined the genotypes at the SAA1 and SAA2 loci in 43 AA-amyloidosis patients (amyloidosis population) and 77 patients with rheumatoid arthritis (RA) who had been ill for less than 5 years (early RA population). We also compared the frequencies of the genotypes at the SAA1 locus among 90 Korean, 95 Taiwanese, and 103 Japanese healthy subjects. The frequencies of the gamma/gamma genotype and gamma alleles at the SAA1 locus were significantly higher in the amyloidosis population than in the early RA population (34.9% versus 7.8%, and 58.1% versus 33.8%, chi2 test P=0.0001). The frequencies of the gamma allele at the SAA1 locus in Koreans, Taiwanese, and Japanese were 41.6%, 35.6%, and 37.4%, respectively. The length of the latent period of AA-amyloidosis was significantly longer in the patients with smaller numbers of the gamma allele at the SAA1 locus (Spearman's correlation coefficient: -0.42, P<0.05). On the other hand, the mean C-reactive protein (CRP) level during 2 years prior to the diagnosis of AA-amyloidosis was significantly higher in the patients with larger numbers of the gamma allele at the SAA1 locus (Spearman's correlation coefficient: 0.34, P<0.05). No significant association was found between amyloidosis and polymorphism at the SAA2 locus. We postulate that the allele SAA1gamma renders an RA patient susceptible to amyloidosis, possibly by affecting the severity of inflammation in RA.

[A case report; systemic lupus erythematosus associated with lupus laryngitis].

Systemic lupus erythematosus (SLE) is an autoimmune collagen vascular disease which produces widespread damage to multiple organs. Few studies on laryngeal involvement in SLE have been reported. We report here a case of SLE complicated by lupus laryngitis. A 27-year-old woman was diagnosed as having SLE in October 1996 based on findings of polyarthritis, lymphocytopenia, positive anti-nuclear antibody and anti-Sm antibodies. Polyarthralgia disappeared transiently, and no other clinical symptoms were found. Therefore, she was followed with no medication. She presented hoarseness with high fever and facial erythema in September 1998. Laboratory findings on admission revealed pancytopenia and hypocomplementemia. Anti-nuclear antibody, anti-Sm antibody and anti-RNP antibody were all positive with high titers. Chest X ray examination showed pleural effusion. Laryngoscopy showed a bamboo-joint-like lesion at the middle of the bilateral vocal cords. She was treated with 60 mg of prednisolone (i.v.) which resulted in improvement of hoarseness, pancytopenia, hypocomplementemia and pleuritis. Based on these findings, we diagnosed her hoarseness as the manifestation of laryngitis associated with SLE (lupus laryngitis).

[Monoclonal rheumatoid factor in a patient with multiple myeloma after chemotherapy].

A patient with multiple myeloma was treated with several cycles of chemotherapy and developed monoclonal IgA rheumatoid factor. The monoclonal rheumatoid factor in this case reacted with 2 types of monoclonal antiidiotypic antibody derived from monoclonal rheumatoid factors in a patient with Sjögren's syndrome and a patient with macroglobulinemia. Two possible mechanisms accounting for the development of rheumatoid factor activity during a course of chemotherapy are discussed. The first possibility is that the rheumatoid factor or activity had been initially covered by an antiidiotypic antibody but was disclosed by the decreased production of this antibody following by the immunosuppressive therapy. The second possibility is that monoclonal IgA acquired rheumatoid factor activity by a point mutation resulting in a change in the molecular structure of the idiotype.

[Primary biliary cirrhosis in patients with Sjögren's syndrome].

Primary biliary cirrhosis (PBC) is one of the most frequent hepatic diseases associated with Sjögren's syndrome (SS), its reported incidence ranging from 3% to 9%. There is much association between SS and PBC in the pathogenesis. In both diseases, autoimmunity seems to be directed toward the ductal epithelial cells. Epstein Barr Virus may contribute to PBC, as well as SS. PBC associated with SS tends to be asymptomatic and to be in an early stage in histologically. Antimitochondrial antibody (AMA) is the most sensitive indicator of PBC in primary SS. When SS patients have an elevated alkaline phosphatase level, it is necessary to examine AMA and to perform liver biopsy.

[Undifferentiated connective tissue syndromes (UCTS) accompanied by laryngeal involvement and autoimmune hepatitis].

Here we report a patient with undifferentiated connective tissue syndromes (UCTS) who developed hoarseness during exacerbation of autoimmune hepatitis. A 51-year-old woman was hospitalized in November 1993 because of hoarseness and liver dysfunction. She had demonstrated Raynaud's phenomenon, polyarthralgia and hoarseness since 1992. In August 1993, liver dysfunction was noted. On admission, laboratory data showed mild leukopenia, thrombocytopenia (WBC 3,900/mm3, platelet 12.4 x 10(4)/mm3), and elevations of transaminase (GOT 96 IU/l, GPT 79 IU/l) and IgG (4,556 mg/dl). Anti-nuclear antibody (ANA) and anti-smooth muscle antibody were positive. Other autoantibodies including anti-DNA antibody, anti-Scl 70 antibody were all negative. LE test and LE cells were also negative. On laryngoscopic examination, lesions that appeared similar to a bamboo-joint were noted at the middle of the bilateral vocal cords. Pathological findings of liver biopsy specimen were compatible with autoimmune hepatitis. She was treated with 30 mg of prednisolone. Polyarthralgia, hoarseness and the abnormalities of the transaminase levels improved rapidly. Laryngoscopic findings were also normalized. We considered this laryngeal involvement to be acute laryngitis accompanied by some UCTS, including a typical systemic lupus erythematosus (SLE) because of arthritis, cytopenia and ANA positivity. Involvement of the larynx in collagen disease is rarely mentioned in published reports.

Sjögren's syndrome with pleural effusion.

Sjögren's syndrome (Sjs) can cause many organic changes, but is rarely accompanied by pleuritis. We report here a 62-year-old patient with subclinical Sjs who developed unilateral pleuritis with moderate effusion. He was diagnosed to have subclinical Sjs based on the positivity of anti SS-A/SS-B antibodies and the biopsy findings of minor salivary glands which revealed lymphocyte infiltration around the duct. In the pleural effusion, both increased lymphocytes and anti SS-A/SS-B antibodies were observed. He showed no signs of infection nor malignancy. There was no direct evidence that he had other collagen diseases which cause pleuritis. We conclude that the pleuritis was caused by Sjs. In patients with Sjs, activated polyclonal B lymphocytes and autoantibodies are considered to cause systemic tissue damage. This case indicates that these factors can cause pleuritis in Sjs patients.

[Low-dose MTX(methotrexate) pulse therapy in a patient with putsulotic-arthro-osteitis (PAO) accompanied with Basedow's disease].

A 62-year-old woman, who had suffered from putsulosis palmaris et plantaris for about two years, was admitted to our hospital due to lumbago, sweating and palpitation. On the basis of physical and endocrinological examinations, she was diagnosed as Basedow's disease. X-ray findings revealed ossification in the left costo-clavicular joints, and characteristic syndesmophytes of PAO in vertebral bodies. These lesions were followed by high accumulation of 99mTc in bone scintigrams. PAO is considered to be in a category of seronegative spondylarthropathy or rheumatic disease. Previous reports of PAO accompanied with autoimmune diseases are few. The association of PAO and Basedow's disease has not been reported. As PAO in this case was refractory to conventional therapies, low-dose MTX pulse therapy(oral 7.5mg/day administration on every week) was initiated. MTX markedly improved both putsulotic palmaris et plantalis and PAO.

Hb Isehara (or Hb Redondo) [beta 92 (F8) His----Asn]: an unstable variant with a proximal histidine substitution at the heme contact.

A 50-year-old Japanese female patient was found to have hemolytic anemia. Isoelectrofocusing of her hemolysate revealed two abnormal hemoglobin bands, one of which was very close to the Hb A2 band, and the other between the Hb A2 and Hb F bands. CM-cellulose column chromatography of the globin prepared from the abnormal hemoglobin showed that the abnormal chain eluted faster than the normal beta and delta chains; the beta X chain, however, did not separate from the normal beta chain in urea cellulose acetate electrophoresis. An instability test of the patient's hemolysate revealed the presence of an unstable component. Structural analysis of the abnormal beta chain indicated that the histidine residue at beta 92(F8) was replaced by an asparagine or aspartic acid residue. DNA amplified by polymerase chain reaction was sequenced by the dideoxy method. The nucleotide sequence of the beta 92 codon was AAC instead of CAC, suggesting that the amino acid substitution corresponded to His----Asn, which is the same as is found in Hb Redondo or beta 92(F8)His----Asn----Asp.