Rare Diseases Symptoms Automatic Extraction

A Man with Paraneoplastic Retinopathy plus Small Fiber Polyneuropathy Associated with Waldenström Macroglobulinemia (Lymphoplasmacytic Lymphoma): Insights into Mechanisms.

[waldenström macroglobulinemia]

Abstract Purpose: To report a well-characterized Waldenström's macroglobulinemia (WM) case that provides insight into the mechanisms of two paraneoplastic complications -- cancer-associated retinopathy (CAR) and small fiber polyneuropathy (SFPN). Methods: Retrospective medical chart review. Results: A 58-year old man with WM developed vision loss and bilateral lower extremity pain. CAR was diagnosed by history, a depressed electroretinogram (ERG) and positive anti-retinal antibodies. SFPN diagnosis was based on abnormal autonomic nerve function testing and a distal-leg skin biopsy that demonstrated absent epidermal small-fiber innervation, IgM and complement deposition and microvasculopathy. Plasma exchange (PLEX) led to dramatic pain relief and subjective improvement in eye symptoms along with improvement of some ERG parameters. Repeat skin biopsy after treatment showed less microvascular abnormalities and decreased complement deposition. Conclusions: The concurrence of CAR and SFPN in this patient suggest that both were complications of WM and their common response to PLEX suggests co-mediation by humoral factors that accessed target antigens through IgM-triggered, complement-mediated vascular damage.

Diseases presenting "pain" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • aniridia
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • coats disease
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • neuralgic amyotrophy
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • trochlear dysplasia
  • typhoid
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome

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