Epidemiology of vitiligo, associated autoimmune diseases and audiological abnormalities: Ankara study of 80 patients in Turkey.

BACKGROUND: Recent clinical studies suggest that the pathogenetic mechanisms of vitiligo could be of systemic origin as vitiligo is associated with auditory abnormalities as well as other autoimmune disorders. OBJECTIVES: To investigate clinical, genetic characteristics and laboratory findings of vitiligo as well as auditory abnormalities and the association of the disease with the other autoimmune disorders. MATERIALS AND METHODS: From January to December 2008, we collected-data from 80 vitiligo patients to establish the clinical and epidemiological profile of vitiligo in Turkey. RESULTS: Thirty patients were men and 50 were women, with a mean age of 37 years and a mean onset age of 10 years. Vitiligo vulgaris was the most common type, followed by focal, acrofacial, segmental and universal types. Forty-four (55%) patients had an associated autoimmune disease. These associated diseases were Hashimoto thyroiditis in 25, alopecia areata in 10, pernicious anaemia in seven and diabetes mellitus in two patients. Statistically significant changes in human leukocyte antigen in patients with vitiligo were HLA A24,-30, B63, CW6, DR15, DR51, DQ5,-6. Auditory problems were observed in 37.7% patients. Nine of the 20 patients showed unilateral minimal hearing loss (>30 dB), while the other 11 demonstrated bilateral hearing loss (>30 dB) over a large range of frequencies (2000-8000 Hz). CONCLUSION: Our study demonstrates that vitiligo is a part of systemic autoimmune process. Audiological examination should be performed in all patients for auditory problems which are commonly presented as hypoacusis.

Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions.

OBJECTIVE: In the era of genome-wide association studies, familial risks are used to estimate disease heritability and the likelihood of candidate-gene identification. This study was undertaken to estimate associations of rheumatoid arthritis (RA) with any of 33 autoimmune diseases and related conditions among parents and offspring, singleton siblings, twins, and spouses. METHODS: The Multigeneration Register in Sweden was used as a reliable source of information on Swedish families throughout the last century. Data on autoimmune diseases in individual family members were obtained through linkage to the Hospital Discharge Register. The standardized incidence ratio (SIR) was calculated as a measure of the relative risk of RA in family members of patients with RA or any of 33 other autoimmune diseases or related conditions, as compared with the relative risk of RA in those lacking an affected family member. RESULTS: Among a total of 447,704 patients, 47,361 were diagnosed as having RA. The SIRs for RA were 3.02 in offspring of affected parents, 4.64 in siblings, 9.31 in multiplex families, 6.48 in twins, and 1.17 in spouses. Significant associations with the familial risk of RA in offspring according to parental proband were observed for ankylosing spondylitis (SIR 2.96), localized scleroderma (SIR 2.40), Sjögren's syndrome (SIR 2.25), systemic lupus erythematosus (SIR 2.13), systemic sclerosis (SIR 1.65), Hashimoto thyroiditis/hypothyroidism (SIR 1.54), pernicious anemia (SIR 1.53), sarcoidosis (SIR 1.40), psoriasis (SIR 1.36), Wegener's granulomatosis (SIR 1.34), and asthma or polymyalgia rheumatica (SIR 1.32). CONCLUSION: This is the first study to compare the familial risks of RA in relation to a large number of autoimmune diseases and related conditions using data from a single population. The high discordant familial risks in this population suggest that there is extensive genetic sharing between RA and the associated diseases.

Pernicious anemia in Chinese: a study of 181 patients in a Hong Kong hospital.

To study the clinical and hematologic features of pernicious anemia in Chinese, we describe 181 Chinese with megaloblastic anemia and low serum cobalamin, in association with either classic Schilling test results (82 patients) or the presence of serum antibody to intrinsic factor (99 patients), encountered in a regional hospital in Hong Kong from May 1994 to May 2005. The median age was 75 years (range, 32-95 yr) and the male to female ratio was 1:1.5. The chief presenting feature was anemia, and fewer than 10% of patients presented predominantly with neurologic deficit. Gastric biopsies of 109 patients showed glandular atrophy in 73, endocrine cell hyperplasia in 5, polyps in 14, adenocarcinoma in 1, and chronic gastritis in the rest. Gastric adenocarcinoma occurred in 1.7% of patients after a median follow-up of 35 months (range, 0.5-132 mo). Diabetes mellitus occurred in 24% of patients and thyroid disease in 7%. No specific ABO blood group was associated with pernicious anemia. Serum antibody to intrinsic factor (73%) occurred more frequently than serum antibody to gastric parietal cell (65%) (p=0.353). The frequency of serum antibody to gastric parietal cell was higher in male (78%) than in female patients (53%) (p=0.018). Pernicious anemia is a major cause of megaloblastic anemia in Chinese.

Pernicious anaemia and neurophysiological studies in Arabs.

While pernicious anaemia is a disease predominantly affecting people of north European descent, there is increasing awareness of its occurrence in other ethnic populations. We document herein details of six Arabs who had pernicious anaemia and significant neurophysiological abnormalities. All the patients made a complete haematological and symptomatic recovery following parenteral administration of hydroxycobalamin. The diagnosis of pernicious anaemia should be considered in Arab patients of all ages who have macrocytic anaemia, or symptoms of peripheral neuropathy. We caution against the empirical use of folic acid and vitamin B12 in the management of patients with chronic anaemia.

Prevalence of undiagnosed pernicious anemia in the elderly.

BACKGROUND: Existing information about the prevalence of pernicious anemia is largely based on older surveys that favored florid manifestations, tended to be retrospective analyses of previously diagnosed disease, and usually studied homogeneous European populations. The lack of current data in the United States has, among other things, hampered discussions of the proposal to increase folate intake by the general population. OBJECTIVE: To estimate the prevalence of undiagnosed and untreated pernicious anemia among the elderly. METHODS: A prospective survey of cobalamin levels and anti-intrinsic factor antibody was done in the elderly. Blood testing was done in 729 people aged 60 years or older and follow-up assessment with the Schilling test and other tests was offered when results were abnormal. RESULTS: Seventeen subjects were found to have pernicious anemia, usually with only minimal clinical manifestations of cobalamin deficiency. Although cobalamin deficiency had been suspected by the physicians of three subjects, they had been treated inadequately and still had evidence of deficiency. Excluding these three partially treated subjects from the analysis, 1.9% of the survey population had unrecognized and untreated pernicious anemia. The prevalence was 2.7% in women and 1.4% in men; 4.3% of the black women and 4.0% of the white women had pernicious anemia. CONCLUSIONS: Undiagnosed pernicious anemia is a common finding in the elderly, especially among black and white women. If these findings can be extrapolated, almost 800000 elderly people in the United States have undiagnosed and untreated pernicious anemia, and, thus, would be at possible risk for masked cobalamin deficiency if exposed to large amounts of folate. This number does not include those elderly with cobalamin deficiency caused by other disorders or the still unknown number of younger people with unrecognized pernicious anemia and other causes of deficiency.

[A Chinese patient with pernicious anemia; a medical experience from the Indonesian period]. / Een Chinees met pernicieuze anemie; een medische ervaring uit de Indonesische periode.

On May 19th 1952 a 64-year-old Chinese man was admitted to a hospital at Yogyakarta (Indonesia) on account of a sawing noise in both ears and some soreness of the tongue. He had macrocytic anemia (haemoglobin: 3.7 mmol/l) and the tongue showed some smooth patches. A presumptive diagnosis of pernicious anaemia was confirmed by gastric analysis which revealed a histamine fast achlorhydria. On treatment with vitamin B12 the noise in the ears rapidly disappeared and there was a characteristic rise in reticulocytes and haemoglobin content. After 3 years the patient died of inoperable gastric carcinoma. There probably was a hereditary component as in a 54-year-old cousin, who also suffered (and died) from gastric carcinoma, gastric analysis showed a histamine fast achlorhydria. The patient is the first case of pernicious anaemia described in a Chinese resident of Indonesia. A survey of the literature revealed that until now pernicious anaemia has been recorded in 31 Chinese patients, in chronological order from the following countries: U.S (1945), Indonesia (1954), Singapore (1967), Hong-Kong (1969) and China (1990). In the autochthonous Chinese population no case has yet been reported.

Pernicious anemia in Arabs.

Over a nine-year period extending from January 1986 to December 1994, eighteen cases of pernicious anemia occurring in Arabs were diagnosed at King Khalid University Hospital in Riyadh. There were 12 Saudi Arab patients and 6 non-Saudi Arabs. There were 11 males and 7 females. The mean age at presentation was 51 years. The presenting symptoms, laboratory features and the disease pattern were similar to those described in northern European patients in most respects with two possible exceptions. First, the mean age at presentation was lower and second, there was a higher frequency of the antibody to intrinsic factor than previously described in northern Europeans. Both differences have been previously noted in Blacks. Associated autoimmune diseases were identified in two patients, one of whom had diabetes mellitus and vitiligo while the other had a remote history of Graves' disease. One young female patient with primary infertility successfully conceived shortly following the initiation of appropriate cyanocobalamin therapy.

Serum and gastric mucosal pepsinogens in atrophic gastritis, particularly in type A gastritis associated with pernicious anemia in Japanese.

The levels of serum pepsinogen I (PG I) and pepsinogen II (PG II) were determined by IRMA (immunoradiometric assay) and the ratio of PG I/II calculated in 37 patients with type A gastritis and concomitant pernicious anemia (PA) and in 97 with chronic gastritis (type B gastritis) among Japanese. In several patients from each group, PG I and PG II in the gastric mucosa were stained by an enzyme antibody assay to compare the percentage of positively stained cells with levels of serum PG I and PG II. The levels of serum PG I and PG II in chronic gastritis decreased as the degree of atrophy increased. Serum PG I and PG II levels in PA were lower than those of patients with severe atrophy. Most of serum PG I levels in PA were less than 10 ng/ml. The PG I/II ratio also decreased as the severity of atrophy increased, distinctly showing that in PA, the ratio were quite low and most of them are less than 1.0. Gastric mucosal pepsinogen showed a tendency similar to that of serum levels and also refrected the degree of atrophy. Therefore, by measuring these parameters it should be easier to determine the extent of atrophy, and to establish a serological diagnosis of type A gastritis associated with PA.

Pernicious anemia in Turkey.

Pernicious anemia patients who were diagnosed during a 5-year period in Cukurova University Hospital, Adana, Turkey were reviewed. Of approximately 200 new patients per year accepted by the Hematology Unit 44 were diagnosed as having pernicious anemia. There were 30 males and 14 females. The mean age for men was 49.14 +/- 18.11 and that for women was 40.00 +/- 14.05. Both values and the mean age overall were lower than the reported mean age for Whites, Blacks and Latin Americans living in the United States.

Pernicious anemia in Latin Americans is not a disease of the elderly.

Pernicious anemia is widely regarded as a disease of the elderly. However, it is expressed differently in black women, among the most striking differences being their younger age at presentation of the disease compared with whites. We now compared 92 Latin-American patients with 115 white and 100 black patients to see if similar age differences occur in other racial groups. Latin-American men and women were both significantly younger than white men and women, and were similar in age to blacks. Only 21% of Latin-American patients were 70 years of age or older, compared with 49% of whites. It is apparent that pernicious anemia is indeed predominantly a disease of the elderly in whites but that this is not the case in other racial groups.