A rare presentation of a rare complication of a rare disease
S.G. Kuiper
Voorzitter(s): prof. dr. M.M.H. Kramer, VUmc, Amsterdam & dr. C.G. Vermeij, Deventer Ziekenhuis
Woensdag 22 april 2015
15:00 - 16:00u
in Zaal 0.5
Categorieën: parallelsessie (case reports/research)
Parallel sessie: Parallelsessie 4: Case reports/research
Introduction:
Hyperimmunoglobulin D syndrome (HIDS) presents typically early in life with attacks of fever with lymphadenopathy, gastro-intestinal discomfort, arthralgia, skin lesions, and aphthous ulcers. Amyloidosis is an infrequent but serious complication (2.9%). We describe a patient who presents with amyloidosis which finally appeared to be HIDS, although he lacked any clinical symptoms of HIDS.
Case report:
A 49-year old man, without a relevant medical history, was referred with newly diagnosed nephrotic syndrome and renal insufficiency (kreatinine 250 umol/l, proteinuria 10 g/day). Besides edema, he experienced no complaints. His sister deceased at 16 years of age due to unknown renal disease. Diagnostic kidney biopsy showed glomerular and vascular AA amyloidosis. Serum amyloid A level was elevated. Analysis for an underlying cause showed no abnormalities. Therapy with ACE-inhibitor and Anakinra was initiated and for 1.5 year renal function remained stable but eventually deteriorated, and renal replacement therapy was started. Because of his sister’s history with unknown renal disease, we referred the patient for genetic testing. Two mutations on the mevalonate kinase (MVK) gene were found which is known to cause HIDS.
Discussion:
As far as we know, this is the first case report which describes a patient without any clinical symptoms of HIDS, who presents with severe AA amyloidosis. Even in patients with lots of inflammatory attacks this is a rare complication of HIDS. This case report shows us that we should be aware of an unusual presentation of clinical diseases and that genetic testing can be helpful in unravelling clinical mysteries.
