A RARE CASE OF FAMILIAL AMYLOIDOSIS CUTIS DYSCHROMICA IN THREE SIBLINGS

Amyloidosis cutis dyschromica is a rare form of primary cutaneous amyloidosis with very few cases reported in literature. We report three siblings , 24 and 20 -year -old females and 22- year- old male presenting with asymptomatic reticulate pigmentation with hypopigmented and hyperpigmented macules, prepubertal onset and familial tendency. Based on histopathological ndings, diagnosis of ACD was made. We present this case due to rarity of its occurrence and resemblance to other commonly occurring reticulate pigment dermatoses.

P2745Trends in rheumatic heart disease in Egypt (2006–2018): data from the national rheumatic heart prevention and control program

Background and objectives Rheumatic Heart Disease (RHD) is a serious cardiac condition in children and young adults, although it remains neglected around the world. The problem of RHD is a national issue in Egypt and is being given priority by the Egyptian Ministry of Health under the auspices of all national experts and leaders concerned. The national RHD prevention and control program was established in 2006 through PHC RHD centers distributed allover the country that are linked to tertiary level cardiac centers. The program conforms to the international guidelines for identification and management pharyngitis, Rheumatic fever (RF) and RHD. The program is projected to save 1.7 billion USD; the cost of valve replacement surgeries as required for the number of RHD cases if they are neglected. Methods A cross sectional study was conducted in a RHD center. over a decade (2006–2018) A total of 17050 individual were enrolled and evaluated. Data collection was done through direct interviewing using a pre-designed questionnaire. John's criteria were used for diagnosing RF. For confirmation of RHD each individual was subjected to ECG and color Doppler echocardiography. Results The majority of the screened subjects were in the age group 5–15 years (69.0%), females (63.2%), rural residents (61.2%), had primary education (42.9%), and of low socioeconomic standard (50.0%). Screening of siblings and relatives of RHD case revealed 22.5% RF cases [11.8% and 10.7% cases with RHD and Rheumatic arthritis (RhA) respectively] suggesting hereditary or familial tendency of the disease. The most frequent presenting symptoms were dyspnea on effort (55.1%), tonsillitis or pharyngitis (38.1%), arthritis (15.3%), arthralgia (5.8%), and fever (2.8%). In total, 12.7% case were diagnosed with RHD, 16.6% had RhA, 0.05% had Rheumatic Chorea, and 72.5% were free of any cardiac insult of which 37.7% were misdiagnoses receiving LaP (99.9%). The mitral valve was the most frequently afflicted (95.2% of all valvular affections). About 54% experienced recurrent attacks of tonsillitis of which 60.4% underwent tonsillectomy [OR 95% CI= 243.4 (183.3–323.4), p<0.0001], 62.6% received LaP [OR 95% CI= 1.5 (1.45–1.64), p<0.0001], and 34.8% had eventually developed rheumatic condition mainly RHD (13.4%), RhA (21.3%) and R. Chorea (0.1%). Among those underwent tonsillectomy and received LaP, 12.8% and 14.8% respectively had developed RHD. However, 61.7% of the latter were not compliant with the biweekly regimen of LaP. During follow-up of RHD cases 1.2% had improved, 98.4% were stable and 0.4% were deteriorated. Conclusion(s) Misdiagnosis of RF is still high. This together with poor compliance with LaP may affect efforts for prevention of disease complications. Updating national guidelines, capacity building, strengthening the quality of LaP, and reliance on appropriate investigation should be emphasized. The presence of hereditary or familial tendency for RF needs to be confirmed. Acknowledgement/Funding the Egyptian Ministry of Health, WHO (Cairo Office), World Heart Fedration (W.H.F) and the African Union

Differences in the Distribution of Cytogenetic Subtypes Between Multiple Myeloma Patients with and without a History of Familial MGUS and Multiple Myeloma

Abstract 4000 Background: We have previously reported that there is an increased risk of monoclonal gammopathy of undetermined significance (MGUS) in first-degree relatives of patients with multiple myeloma (Vachon CM. Blood 2009 114: 785–790). There are several cytogenetic subtypes of myeloma, and there are no data on whether certain cytogenetic subtypes of myeloma are more frequently associated with familial MGUS. Methods: We studied patients with myeloma who participated in the familial MGUS study in whom presence or absence of MGUS in the first-degree relatives had been ascertained (Vachon CM. Blood 2009 114: 785–790). Probands were seen at the Mayo Clinic Hematology/Oncology practice (Rochester, MN, USA) between February 2006 and September 2007. Cytogenetic data was acquired via electronic medical record abstraction of fluorescence in-situ hybridization (FISH) lab reports, and used to categorize patients into one of nine cytogenetic subgroups: trisomy(ies), t(6;14), t(11;14), t(4;14), t(14;16), t(14;20), Mixed (those with trisomy(ies) and an IgH translocation), other cytogenetic abnormalities (in the absence of trisomy(ies) or IgH translocation), and normal (Kumar S. Blood 2012;119:2100–2105). We examined whether a difference in the distribution of the six primary cytogenetic categories of myeloma existed between probands with a family history of MGUS and/or myeloma and those without. Results and Conclusions: Of the 248 patients invited to participate, FISH data (with sufficient plasma cells) was available on 119 participants to establish the primary molecular cytogenetic classification of myeloma. All had available information regarding family history of MGUS and multiple myeloma. 27 had an affected first-degree relative with MGUS, and 92 did not. Distributions of cytogenetic subtypes in the two groups are shown in Table 1. IgH translocated MM was more common in myeloma patients who lacked an affected first-degree relative compared to those with familial MGUS (19% vs 30%, P=0.32) Interestingly, the t(11;14) subtype was more common in myeloma patients without familial MGUS compared to those with an first-degree relative with MGUS (19.6% vs 7.4%, P=0.24). The differences in Table 1 did not reach statistical significance, possibly due to the small numbers of individuals with a family history in this sample. However, the distribution (Table 1) suggests that the distribution of cytogenetic subtypes may be different in myeloma that is not associated with familial MGUS compared with myeloma in which a familial tendency is detected. IgH translocated MM appears to have a lower risk of familial tendency. Further investigation is needed to estimate the risk of familial MGUS within each cytogenetic subtype. Disclosures: Kumar: Merck: Consultancy, Honoraria; Millennium: Research Funding; Celgene: Consultancy, Research Funding; Novartis: Research Funding; Genzyme: Research Funding.